KRBA1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	LOC121740684, LOC121740685 +4735 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC111674474, LOC111674475 +2212 more	Copy number gain	See cases	GPathogenic
Select item 152912	GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3	LOC129999548, LOC129999549 +1547 more	Copy number gain	See cases	GPathogenic
Select item 149905	GRCh38/hg38 7q31.32-36.3(chr7:121863759-159335865)x3	LOC129999653, LOC129999654 +1380 more	Copy number gain	See cases	GPathogenic
Select item 57215	GRCh38/hg38 7q32.1-36.3(chr7:129310166-159282390)x3	C7orf33, CALD1 +1176 more	Copy number gain	See cases	GPathogenic
Select item 155687	GRCh38/hg38 7q32.3-36.3(chr7:131171478-159327017)x3	LOC129999666, LOC129999667 +1052 more	Copy number gain	See cases	GPathogenic
Select item 154735	GRCh38/hg38 7q32.3-36.3(chr7:131228764-159335866)x3	TMEM140, TMEM176A +1046 more	Copy number gain	See cases	GPathogenic
Select item 155640	GRCh38/hg38 7q32.3-36.3(chr7:132438072-159327017)x3	LOC129999503, LOC129999504 +1025 more	Copy number gain	See cases	GPathogenic
Select item 150858	GRCh38/hg38 7q32.3-36.3(chr7:132444095-159335866)x3	LINC00996, LINC01003 +1025 more	Copy number gain	See cases	GPathogenic
Select item 57401	GRCh38/hg38 7q32.3-36.3(chr7:132850196-159325876)x3	ABCB8, ABCF2 +1019 more	Copy number gain	See cases	GPathogenic
Select item 149061	GRCh38/hg38 7q33-36.3(chr7:134666829-158591882)x1	WDR86, WDR86-AS1 +944 more	Copy number loss	See cases	GPathogenic
Select item 59716	GRCh38/hg38 7q33-36.3(chr7:136309982-159307523)x3	LOC129999526, LOC129999527 +908 more	Copy number gain	See cases	GPathogenic
Select item 2579170	GRCh38/hg38 7q33-36.3(chr7:137463392-159345973)x3	AGAP3, AGK +888 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 147398	GRCh38/hg38 7q33-36.2(chr7:137751200-154815582)x3	ABCB8, ABCF2 +692 more	Copy number gain	See cases	GPathogenic
Select item 2579171	GRCh38/hg38 7q34-36.3(chr7:138620939-159233475)x3	DYNC2I1, EN2 +847 more	Copy number gain	Neurodevelopmental disorder	GLikely pathogenic
Select item 60300	GRCh38/hg38 7q34-36.3(chr7:140754198-159307523)x1	LOC129999649, LOC129999650 +737 more	Copy number loss	See cases	GPathogenic
Select item 148181	GRCh38/hg38 7q34-36.3(chr7:141960861-159335866)x1	ABCB8, ABCF2 +707 more	Copy number loss	See cases	GPathogenic
Select item 149558	GRCh38/hg38 7q35-36.1(chr7:143596735-150089125)x4	ACTR3C, ARHGEF35 +172 more	Copy number gain	See cases	GLikely pathogenic
Select item 60302	GRCh38/hg38 7q35-36.3(chr7:143884559-159282390)x1	LOC129999755, LOC129999756 +573 more	Copy number loss	See cases	GPathogenic
Select item 57118	GRCh38/hg38 7q35-36.1(chr7:143884559-152674271)x1	ABCB8, ABCF2 +358 more	Copy number loss	See cases	GPathogenic
Select item 148943	GRCh38/hg38 7q35-36.3(chr7:145250254-159335866)x1	LOC105375556, LOC105375589 +540 more	Copy number loss	See cases	GPathogenic
Select item 148263	GRCh38/hg38 7q35-36.3(chr7:145436544-159331441)x1	ABCB8, ABCF2 +538 more	Copy number loss	See cases	GLikely pathogenic
Select item 60312	GRCh38/hg38 7q35-36.3(chr7:145699944-159296617)x1	ABCB8, ABCF2 +533 more	Copy number loss	See cases	GPathogenic
Select item 148715	GRCh38/hg38 7q35-36.3(chr7:146047157-157522158)x1	ABCB8, ABCF2 +473 more	Copy number loss	See cases	GPathogenic
Select item 155436	GRCh38/hg38 7q35-36.3(chr7:147144002-159327017)x1	LOC126860247, LOC126860248 +526 more	Copy number loss	See cases	GPathogenic
Select item 57408	GRCh38/hg38 7q35-36.3(chr7:147250465-159325876)x1	ABCB8, ABCF2 +526 more	Copy number loss	See cases	GPathogenic
Select item 146558	GRCh38/hg38 7q35-36.2(chr7:147345844-153833351)x3	ABCB8, ABCF2 +329 more	Copy number gain	See cases	GPathogenic
Select item 57185	GRCh38/hg38 7q35-36.1(chr7:147345844-150426340)x1	ACTR3C, ATP6V0E2 +142 more	Copy number loss	See cases	GPathogenic
Select item 60313	GRCh38/hg38 7q36.1(chr7:148256584-152332535)x1	ABCB8, ABCF2 +293 more	Copy number loss	See cases	GPathogenic
Select item 144920	GRCh38/hg38 7q36.1(chr7:149666954-149906059)x3	ACTR3C, ATP6V0E2 +15 more	Copy number gain	See cases	GBenign
Select item 2303984	NM_001290187.2(KRBA1):c.110G>A (p.Arg37Gln)	KRBA1 (R2Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2545134	NM_001290187.2(KRBA1):c.118T>C (p.Tyr40His)	KRBA1 (Y40H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2217764	NM_001290187.2(KRBA1):c.125C>T (p.Thr42Met)	KRBA1 (T42M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3116233	NM_001290187.2(KRBA1):c.179C>G (p.Pro60Arg)	KRBA1 (P60R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2658145	NM_001290187.2(KRBA1):c.248G>C (p.Gly83Ala)	KRBA1 (G105A +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2278247	NM_001290187.2(KRBA1):c.283C>T (p.His95Tyr)	KRBA1 (H117Y +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2224302	NM_001290187.2(KRBA1):c.305T>C (p.Leu102Pro)	KRBA1 (L102P +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2479476	NM_001290187.2(KRBA1):c.312G>C (p.Lys104Asn)	KRBA1 (K104N +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2618565	NM_001290187.2(KRBA1):c.349G>A (p.Ala117Thr)	KRBA1 (A139T +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2266630	NM_001290187.2(KRBA1):c.369C>A (p.Ser123Arg)	KRBA1 (S123R +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2244030	NM_001290187.2(KRBA1):c.416-3C>T	KRBA1 (A124V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3116229	NM_001290187.2(KRBA1):c.567C>G (p.Ile189Met)	KRBA1 (I139M +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2346112	NM_001290187.2(KRBA1):c.577G>A (p.Asp193Asn)	KRBA1 (D178N +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2268424	NM_001290187.2(KRBA1):c.622G>A (p.Gly208Arg)	KRBA1 (G193R +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2331292	NM_001290187.2(KRBA1):c.689C>T (p.Thr230Ile)	KRBA1 (T216I +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2269748	NM_001290187.2(KRBA1):c.731G>A (p.Gly244Asp)	KRBA1 (G194D +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 818174	NM_001290187.2(KRBA1):c.742T>C (p.Cys248Arg)	KRBA1 (C214R +8 more)	Single nucleotide variant (missense variant +1 more)	not provided	Gnot provided
Select item 3116230	NM_001290187.2(KRBA1):c.760G>A (p.Val254Met)	KRBA1 (V254M +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3116231	NM_001290187.2(KRBA1):c.761T>C (p.Val254Ala)	KRBA1 (V254A +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3116232	NM_001290187.2(KRBA1):c.772C>T (p.Arg258Trp)	KRBA1 (R223W +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2658146	NM_001290187.2(KRBA1):c.820G>A (p.Gly274Ser)	KRBA1 (G224S +8 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2340224	NM_001290187.2(KRBA1):c.928C>G (p.Leu310Val)	KRBA1 (L275V +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2490869	NM_001290187.2(KRBA1):c.946G>A (p.Ala316Thr)	KRBA1 (A281T +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2601479	NM_001290187.2(KRBA1):c.980G>A (p.Gly327Glu)	KRBA1 (G277E +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3116234	NM_001290187.2(KRBA1):c.986G>A (p.Arg329Gln)	KRBA1 (R351Q +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3116235	NM_001290187.2(KRBA1):c.988C>T (p.Arg330Trp)	KRBA1 (R280W +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 818175	NM_001290187.2(KRBA1):c.1031-4G>A	KRBA1	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 2397825	NM_001290187.2(KRBA1):c.1081G>C (p.Gly361Arg)	KRBA1 (G347R +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2310887	NM_001290187.2(KRBA1):c.1162C>T (p.Leu388Phe)	KRBA1 (L353F +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2300482	NM_001290187.2(KRBA1):c.1210T>C (p.Trp404Arg)	KRBA1 (W370R +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3116216	NM_001290187.2(KRBA1):c.1243A>G (p.Ser415Gly)	KRBA1 (S415G +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2658147	NM_001290187.2(KRBA1):c.1267G>A (p.Ala423Thr)	KRBA1 (A373T +8 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2395710	NM_001290187.2(KRBA1):c.1271G>A (p.Cys424Tyr)	KRBA1 (C374Y +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3116217	NM_001290187.2(KRBA1):c.1286C>T (p.Pro429Leu)	KRBA1 (P379L +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2601675	NM_001290187.2(KRBA1):c.1298C>T (p.Ser433Leu)	KRBA1 (S398L +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2398144	NM_001290187.2(KRBA1):c.1316C>T (p.Pro439Leu)	KRBA1 (P389L +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3116218	NM_001290187.2(KRBA1):c.1388G>A (p.Arg463Lys)	KRBA1 (R429K +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2608742	NM_001290187.2(KRBA1):c.1610T>C (p.Leu537Pro)	KRBA1 (L522P +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3116219	NM_001290187.2(KRBA1):c.1651C>T (p.Pro551Ser)	KRBA1 (P537S +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3116220	NM_001290187.2(KRBA1):c.1670C>T (p.Ser557Leu)	KRBA1 (S579L +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2486168	NM_001290187.2(KRBA1):c.1675G>A (p.Ala559Thr)	KRBA1 (A525T +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2307368	NM_001290187.2(KRBA1):c.1775G>C (p.Arg592Thr)	KRBA1 (R577T +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2495177	NM_001290187.2(KRBA1):c.1888G>A (p.Gly630Arg)	KRBA1 (G580R +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2322379	NM_001290187.2(KRBA1):c.1994C>T (p.Ala665Val)	KRBA1 (A604V +11 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2361600	NM_001290187.2(KRBA1):c.2068C>T (p.Pro690Ser)	KRBA1 (P614S +11 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2341517	NM_001290187.2(KRBA1):c.2095C>T (p.Pro699Ser)	KRBA1 (P664S +11 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3116222	NM_001290187.2(KRBA1):c.2269C>T (p.Pro757Ser)	KRBA1 (P673L +15 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2270825	NM_001290187.2(KRBA1):c.2298G>T (p.Arg766Ser)	KRBA1 (G698C +15 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3116223	NM_001290187.2(KRBA1):c.2369G>C (p.Arg790Thr)	KRBA1 (R755T +9 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2466639	NM_001290187.2(KRBA1):c.2386C>T (p.Pro796Ser)	KRBA1 (P761S +9 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3116224	NM_001290187.2(KRBA1):c.2647G>A (p.Gly883Ser)	KRBA1 (G849S +9 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2621128	NM_001290187.2(KRBA1):c.2669C>T (p.Thr890Ile)	KRBA1 (T795I +9 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3116225	NM_001290187.2(KRBA1):c.2789G>A (p.Arg930Lys)	KRBA1 (R869K +9 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2462009	NM_001290187.2(KRBA1):c.2822C>T (p.Thr941Ile)	KRBA1 (T927I +9 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3116226	NM_001290187.2(KRBA1):c.2860C>T (p.Pro954Ser)	KRBA1 (P920S +9 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3116227	NM_001290187.2(KRBA1):c.2935C>T (p.Pro979Ser)	KRBA1 (P965S +9 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2376851	NM_001290187.2(KRBA1):c.2946C>A (p.His982Gln)	KRBA1 (H1004Q +9 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3116228	NM_001290187.2(KRBA1):c.2948C>G (p.Pro983Arg)	KRBA1 (P948R +9 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2568860	NM_001290187.2(KRBA1):c.2966G>A (p.Gly989Glu)	KRBA1 (G1011E +9 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2311551	NM_001290187.2(KRBA1):c.2984T>G (p.Leu995Arg)	KRBA1 (L900R +9 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2551197	NM_001290187.2(KRBA1):c.3010C>T (p.Pro1004Ser)	KRBA1 (P989S +9 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2225912	NM_001290187.2(KRBA1):c.3106C>T (p.Pro1036Ser)	KRBA1 (P1052S +9 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3148948	GRCh37/hg19 7q34-36.3(chr7:141690279-159119707)x3	ABCB8, ABCF2 +125 more	Copy number gain	See cases	GPathogenic
Select item 3062984	GRCh37/hg19 7q33-36.3(chr7:137456457-159119707)x3	ABCB8, ABCF2 +165 more	Copy number gain	not specified	GPathogenic
Select item 3062962	GRCh37/hg19 7q36.1(chr7:148896264-150963866)x1	LOC100134040, LRRC61 +40 more	Copy number loss	not specified	GPathogenic
Select item 2685275	GRCh37/hg19 7q36.1(chr7:148538593-150967829)x1	TMEM176B, ZNF425 +49 more	Copy number loss	not provided	GPathogenic
Select item 2685274	GRCh37/hg19 7q35-36.3(chr7:144940098-159119707)x1	INSIG1, PDIA4 +80 more	Copy number loss	not provided	GPathogenic
Select item 2685272	GRCh37/hg19 7q34-36.3(chr7:142099013-159119707)x1	CLCN1, RHEB +123 more	Copy number loss	not provided	GPathogenic
Select item 2685271	GRCh37/hg19 7q33-36.3(chr7:135639005-159119707)x1	ARHGEF35, KEL +169 more	Copy number loss	not provided	GPathogenic
Select item 2583057	GRCh37/hg19 7q34-36.1(chr7:140154317-152551638)x1	C7orf33, CASP2 +125 more	Copy number loss	not provided	GPathogenic

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