1154[geneid] - ClinVar

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Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144168	GRCh38/hg38 3p21.31-21.2(chr3:45879883-50749922)x4	ALS2CL, AMIGO3 +379 more	Copy number gain	See cases	GPathogenic
Select item 57771	GRCh38/hg38 3p21.31-14.3(chr3:49461000-55314500)x1	ABHD14A, ABHD14A-ACY1 +329 more	Copy number loss	See cases	GPathogenic
Select item 3040213	NM_145071.4(CISH):c.*6C>T	CISH	Single nucleotide variant (3 prime UTR variant)	CISH-related disorder	GLikely benign
Select item 2411643	NM_145071.4(CISH):c.733C>G (p.Arg245Gly)	CISH (R245G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145138	NM_145071.4(CISH):c.721C>A (p.Leu241Met)	CISH (L258M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1048842	NM_145071.4(CISH):c.698G>A (p.Arg233His)	CISH (R233H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 716306	NM_145071.4(CISH):c.669G>A (p.Leu223=)	CISH	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2292832	NM_145071.4(CISH):c.662G>A (p.Arg221His)	CISH (R238H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376747	NM_145071.4(CISH):c.650G>A (p.Arg217Lys)	CISH (R234K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600305	NM_145071.4(CISH):c.532C>T (p.Pro178Ser)	CISH (P178S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244960	NM_145071.4(CISH):c.523A>G (p.Ser175Gly)	CISH (S175G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 710598	NM_145071.4(CISH):c.519C>T (p.Ser173=)	CISH	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 3145137	NM_145071.4(CISH):c.514C>G (p.Arg172Gly)	CISH (R189G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357368	NM_145071.4(CISH):c.428A>G (p.Asn143Ser)	CISH (N143S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145135	NM_145071.4(CISH):c.416G>A (p.Arg139His)	CISH (R156H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145134	NM_145071.4(CISH):c.403G>A (p.Asp135Asn)	CISH (D152N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 723118	NM_145071.4(CISH):c.233G>A (p.Arg78Gln)	CISH (R78Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 3029724	NM_145071.4(CISH):c.138G>A (p.Val46=)	CISH	Single nucleotide variant (synonymous variant)	CISH-related disorder	GLikely benign
Select item 3145132	NM_145071.4(CISH):c.86T>C (p.Leu29Pro)	CISH (L46P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278059	NM_145071.4(CISH):c.46C>T (p.Arg16Trp)	CISH (R16W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145136	NM_145071.4(CISH):c.20+1236G>A	CISH (A17T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2350411	NM_145071.4(CISH):c.20+1222A>G	CISH (H12R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 7091	NM_001243926.2(MAPKAPK3):c.-436A>T	CISH, LOC129936806 +1 more	Single nucleotide variant (5 prime UTR variant)	Bacteremia, susceptibility to, 2 +2 more	Grisk factor
Select item 1511582	NC_000003.11:g.(?_50540629)_(50655235_?)dup	C3orf18, CACNA2D2 +3 more	Duplication	not provided	GUncertain significance
Select item 1456135	NC_000003.11:g.(?_49547968)_(50685477_?)del	CDHR4, CISH +38 more	Deletion	Early infantile epileptic encephalopathy with suppression bursts	GPathogenic
Select item 1432141	NC_000003.11:g.(?_50431520)_(50685477_?)dup	C3orf18, CACNA2D2 +3 more	Duplication	not provided	GUncertain significance
Select item 980510	GRCh37/hg19 3p21.31-21.2(chr3:48807193-51363558)x1	MST1, ARIH2 +64 more	Copy number loss	not provided	GPathogenic
Select item 625696	GRCh37/hg19 3p21.31-21.1(chr3:45153770-53878616)	AMT, APEH +177 more	Copy number gain	not provided	GPathogenic
Select item 562768	GRCh37/hg19 3p21.31-21.2(chr3:50435928-50732729)x3	CISH, DOCK3 +4 more	Copy number gain	not provided	GUncertain significance
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	CMTM6, CMTM7 +1054 more	Copy number gain	See cases	GPathogenic

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Items: 31