60676[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC129931453, LOC129931454 +1585 more	Copy number gain	See cases	GPathogenic
Select item 58111	GRCh38/hg38 1q23.3-25.2(chr1:164922655-180061589)x3	FAM163A, FAM20B +482 more	Copy number gain	See cases	GPathogenic
Select item 148038	GRCh38/hg38 1q24.2-25.2(chr1:169218236-178075834)x1	ANKRD45, ASTN1 +239 more	Copy number loss	See cases	GPathogenic
Select item 155621	GRCh38/hg38 1q24.2-31.1(chr1:170036068-187555148)x1	MYOC, MYOCOS +540 more	Copy number loss	See cases	GPathogenic
Select item 154301	GRCh38/hg38 1q24.3-31.2(chr1:170929720-191065409)x1	LOC129932075, LOC129932076 +560 more	Copy number loss	See cases	GPathogenic
Select item 145519	GRCh38/hg38 1q24.3-31.1(chr1:171039975-186875957)x3	ABL2, ACBD6 +513 more	Copy number gain	See cases	GPathogenic
Select item 57510	GRCh38/hg38 1q25.1-31.1(chr1:175035040-186042595)x1	ABL2, ACBD6 +347 more	Copy number loss	See cases	GPathogenic
Select item 2291899	NM_020318.3(PAPPA2):c.16A>G (p.Ile6Val)	PAPPA2 (I6V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2518508	NM_020318.3(PAPPA2):c.35C>A (p.Ala12Glu)	PAPPA2 (A12E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2245720	NM_020318.3(PAPPA2):c.133T>A (p.Leu45Met)	PAPPA2 (L45M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2207713	NM_020318.3(PAPPA2):c.145C>T (p.Arg49Cys)	PAPPA2 (R49C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2411325	NM_020318.3(PAPPA2):c.280C>T (p.Arg94Cys)	PAPPA2 (R94C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2479487	NM_020318.3(PAPPA2):c.389T>A (p.Val130Glu)	PAPPA2 (V130E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 797175	NM_020318.3(PAPPA2):c.445G>A (p.Gly149Ser)	PAPPA2 (G149S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2335046	NM_020318.3(PAPPA2):c.451C>A (p.Gln151Lys)	PAPPA2 (Q151K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 784962	NM_020318.3(PAPPA2):c.512C>G (p.Thr171Ser)	PAPPA2 (T171S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 723215	NM_020318.3(PAPPA2):c.543C>T (p.Asn181=)	LOC126805929, PAPPA2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2509724	NM_020318.3(PAPPA2):c.593G>A (p.Arg198His)	LOC126805929, PAPPA2 (R198H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2255220	NM_020318.3(PAPPA2):c.602T>C (p.Val201Ala)	LOC126805929, PAPPA2 (V201A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2484391	NM_020318.3(PAPPA2):c.623A>G (p.Asp208Gly)	LOC126805929, PAPPA2 (D208G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2559189	NM_020318.3(PAPPA2):c.626G>A (p.Gly209Glu)	LOC126805929, PAPPA2 (G209E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2477209	NM_020318.3(PAPPA2):c.641G>T (p.Gly214Val)	LOC126805929, PAPPA2 (G214V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2381068	NM_020318.3(PAPPA2):c.722A>G (p.Gln241Arg)	LOC126805929, PAPPA2 (Q241R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3208505	NM_020318.3(PAPPA2):c.770A>G (p.Gln257Arg)	LOC126805929, PAPPA2 (Q257R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2265928	NM_020318.3(PAPPA2):c.805C>T (p.Arg269Trp)	LOC126805929, PAPPA2 (R269W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2309106	NM_020318.3(PAPPA2):c.842A>C (p.Glu281Ala)	LOC126805929, PAPPA2 (E281A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2387853	NM_020318.3(PAPPA2):c.856G>A (p.Ala286Thr)	LOC126805929, PAPPA2 (A286T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2482430	NM_020318.3(PAPPA2):c.920G>A (p.Gly307Asp)	PAPPA2 (G307D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2370393	NM_020318.3(PAPPA2):c.943A>G (p.Thr315Ala)	PAPPA2 (T315A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3208506	NM_020318.3(PAPPA2):c.977G>A (p.Arg326His)	PAPPA2 (R326H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2411388	NM_020318.3(PAPPA2):c.983G>T (p.Gly328Val)	PAPPA2 (G328V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1339832	NM_020318.3(PAPPA2):c.1013TCT[2] (p.Phe340del)	PAPPA2 (F340del)	Microsatellite (inframe_deletion)	not provided	Gnot provided
Select item 2639578	NM_020318.3(PAPPA2):c.1032C>T (p.Thr344=)	PAPPA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2639579	NM_020318.3(PAPPA2):c.1039G>A (p.Val347Met)	PAPPA2 (V347M)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2321539	NM_020318.3(PAPPA2):c.1049C>A (p.Ala350Asp)	PAPPA2 (A350D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2336880	NM_020318.3(PAPPA2):c.1056C>G (p.Ile352Met)	PAPPA2 (I352M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2224819	NM_020318.3(PAPPA2):c.1072C>T (p.Arg358Cys)	PAPPA2 (R358C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3208475	NM_020318.3(PAPPA2):c.1073G>A (p.Arg358His)	PAPPA2 (R358H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1707725	NM_020318.3(PAPPA2):c.1120C>T (p.Arg374Trp)	PAPPA2 (R374W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3208476	NM_020318.3(PAPPA2):c.1180C>A (p.Pro394Thr)	PAPPA2 (P394T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2365844	NM_020318.3(PAPPA2):c.1210C>T (p.Arg404Cys)	PAPPA2 (R404C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2639580	NM_020318.3(PAPPA2):c.1240G>C (p.Glu414Gln)	PAPPA2 (E414Q)	Single nucleotide variant (missense variant)	PAPPA2-related condition +1 more	GLikely benign
Select item 2300557	NM_020318.3(PAPPA2):c.1240G>A (p.Glu414Lys)	PAPPA2 (E414K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2210885	NM_020318.3(PAPPA2):c.1322G>A (p.Ser441Asn)	PAPPA2 (S441N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2525942	NM_020318.3(PAPPA2):c.1351G>A (p.Ala451Thr)	PAPPA2 (A451T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3208477	NM_020318.3(PAPPA2):c.1352C>G (p.Ala451Gly)	PAPPA2 (A451G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2280527	NM_020318.3(PAPPA2):c.1384C>T (p.Pro462Ser)	PAPPA2 (P462S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2494619	NM_020318.3(PAPPA2):c.1394C>T (p.Thr465Ile)	PAPPA2 (T465I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2366555	NM_020318.3(PAPPA2):c.1416T>G (p.Asp472Glu)	PAPPA2 (D472E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2221521	NM_020318.3(PAPPA2):c.1460A>T (p.Glu487Val)	PAPPA2 (E487V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 767730	NM_020318.3(PAPPA2):c.1475C>T (p.Ser492Leu)	PAPPA2 (S492L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3208478	NM_020318.3(PAPPA2):c.1577G>A (p.Arg526His)	PAPPA2 (R526H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2289270	NM_020318.3(PAPPA2):c.1642C>T (p.Arg548Cys)	PAPPA2 (R548C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2215208	NM_020318.3(PAPPA2):c.1678C>T (p.Arg560Cys)	PAPPA2 (R560C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3208479	NM_020318.3(PAPPA2):c.1679G>A (p.Arg560His)	PAPPA2 (R560H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1339833	NM_020318.3(PAPPA2):c.1732C>T (p.Arg578Ter)	PAPPA2 (R578*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2250954	NM_020318.3(PAPPA2):c.1735C>T (p.His579Tyr)	PAPPA2 (H579Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3208480	NM_020318.3(PAPPA2):c.1850G>A (p.Arg617His)	PAPPA2 (R617H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3208481	NM_020318.3(PAPPA2):c.1858T>A (p.Ser620Thr)	PAPPA2 (S620T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2385970	NM_020318.3(PAPPA2):c.1868G>A (p.Arg623His)	PAPPA2 (R623H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3208482	NM_020318.3(PAPPA2):c.1897A>G (p.Asn633Asp)	PAPPA2 (N633D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1202641	NM_020318.3(PAPPA2):c.1928_1929insAT (p.Asp643fs)	PAPPA2 (D643fs)	Insertion (frameshift variant)	Short stature, Dauber-Argente type	GPathogenic
Select item 3208483	NM_020318.3(PAPPA2):c.1958G>A (p.Arg653His)	PAPPA2 (R653H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3208484	NM_020318.3(PAPPA2):c.1988A>C (p.Lys663Thr)	PAPPA2 (K663T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 144717	GRCh38/hg38 1q25.2-31.3(chr1:176595962-196301688)x1	ANGPTL1, APOBEC4 +455 more	Copy number loss	See cases	GPathogenic
Select item 2322511	NM_020318.3(PAPPA2):c.2015T>A (p.Leu672Gln)	PAPPA2 (L672Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3208485	NM_020318.3(PAPPA2):c.2023G>A (p.Ala675Thr)	PAPPA2 (A675T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2210775	NM_020318.3(PAPPA2):c.2072C>T (p.Ser691Leu)	PAPPA2 (S691L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 717136	NM_020318.3(PAPPA2):c.2121C>T (p.Asp707=)	PAPPA2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2592697	NM_020318.3(PAPPA2):c.2300C>T (p.Thr767Met)	PAPPA2 (T767M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2084784	NM_020318.3(PAPPA2):c.2305_2306del (p.Asp769fs)	PAPPA2 (D769fs)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 3208486	NM_020318.3(PAPPA2):c.2321C>A (p.Thr774Asn)	PAPPA2 (T774N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3037873	NM_020318.3(PAPPA2):c.2375C>T (p.Thr792Ile)	PAPPA2 (T792I)	Single nucleotide variant (missense variant)	PAPPA2-related condition	GLikely benign
Select item 2639581	NM_020318.3(PAPPA2):c.2406G>A (p.Pro802=)	PAPPA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3065293	NM_020318.3(PAPPA2):c.2431+46del	PAPPA2 (G826fs)	Deletion (frameshift variant +1 more)	Short stature, Dauber-Argente type	GUncertain significance
Select item 3208487	NM_020318.3(PAPPA2):c.2462A>T (p.Asn821Ile)	PAPPA2 (N821I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3208488	NM_020318.3(PAPPA2):c.2540C>G (p.Pro847Arg)	PAPPA2 (P847R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3208489	NM_020318.3(PAPPA2):c.2561G>A (p.Gly854Glu)	PAPPA2 (G854E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 789155	NM_020318.3(PAPPA2):c.2637C>T (p.Ser879=)	PAPPA2	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2525016	NM_020318.3(PAPPA2):c.2646C>T (p.Gly882=)	PAPPA2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3208490	NM_020318.3(PAPPA2):c.2647G>A (p.Ala883Thr)	PAPPA2 (A883T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1202643	NM_020318.3(PAPPA2):c.2656G>T (p.Glu886Ter)	PAPPA2 (E886*)	Single nucleotide variant (nonsense)	Short stature, Dauber-Argente type	GPathogenic
Select item 2609576	NM_020318.3(PAPPA2):c.2675A>T (p.Gln892Leu)	PAPPA2 (Q892L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2376109	NM_020318.3(PAPPA2):c.2702G>A (p.Arg901Gln)	PAPPA2 (R901Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3208491	NM_020318.3(PAPPA2):c.2861A>G (p.Glu954Gly)	PAPPA2 (E954G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3208492	NM_020318.3(PAPPA2):c.2890G>T (p.Asp964Tyr)	PAPPA2 (D964Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 784963	NM_020318.3(PAPPA2):c.3053C>T (p.Ser1018Leu)	PAPPA2 (S1018L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2384933	NM_020318.3(PAPPA2):c.3073T>C (p.Phe1025Leu)	PAPPA2 (F1025L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1202642	NM_020318.3(PAPPA2):c.3098C>T (p.Ala1033Val)	PAPPA2	Single nucleotide variant (missense variant)	Short stature, Dauber-Argente type	GPathogenic
Select item 2614978	NM_020318.3(PAPPA2):c.3118C>G (p.Pro1040Ala)	PAPPA2 (P1040A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3208493	NM_020318.3(PAPPA2):c.3119C>T (p.Pro1040Leu)	PAPPA2 (P1040L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2398691	NM_020318.3(PAPPA2):c.3122A>G (p.His1041Arg)	PAPPA2 (H1041R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2621692	NM_020318.3(PAPPA2):c.3151G>A (p.Val1051Met)	PAPPA2 (V1051M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 775628	NM_020318.3(PAPPA2):c.3171C>T (p.Arg1057=)	PAPPA2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3036639	NM_020318.3(PAPPA2):c.3365+10T>G	PAPPA2	Single nucleotide variant (intron variant)	PAPPA2-related condition	GLikely benign
Select item 2066135	NM_020318.3(PAPPA2):c.3376G>T (p.Glu1126Ter)	PAPPA2 (E1126*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3208494	NM_020318.3(PAPPA2):c.3448A>C (p.Asn1150His)	PAPPA2 (N1150H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3208495	NM_020318.3(PAPPA2):c.3478A>G (p.Met1160Val)	PAPPA2 (M1160V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2367034	NM_020318.3(PAPPA2):c.3481T>C (p.Tyr1161His)	PAPPA2 (Y1161H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2381638	NM_020318.3(PAPPA2):c.3496A>G (p.Ile1166Val)	PAPPA2 (I1166V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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