19392[HGNC] - ClinVar

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Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	ABCD4, ABHD12B +3281 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	ABCD4, ABHD12B +3276 more	Copy number gain	See cases	GPathogenic
Select item 152063	GRCh38/hg38 14q21.1-22.3(chr14:39196172-56714461)x3	ABHD12B, ARF6 +394 more	Copy number gain	See cases	GLikely pathogenic
Select item 57779	GRCh38/hg38 14q22.1-22.3(chr14:50591011-56286919)x1	ABHD12B, ATG14 +217 more	Copy number loss	See cases	GPathogenic
Select item 146623	GRCh38/hg38 14q22.1-22.3(chr14:51544846-55320598)x1	BMP4, CDKN3 +147 more	Copy number loss	See cases	GPathogenic
Select item 3061843	GRCh38/hg38 14q22.2-22.3(chr14:53949639-56297420)x1	ATG14, BMP4 +89 more	Copy number loss	Dystonia 5	GPathogenic
Select item 768653	NM_199421.2(SOCS4):c.60G>A (p.Arg20=)	SOCS4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2404961	NM_199421.2(SOCS4):c.62G>A (p.Ser21Asn)	SOCS4 (S21N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167402	NM_199421.2(SOCS4):c.171A>T (p.Lys57Asn)	SOCS4 (K57N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167403	NM_199421.2(SOCS4):c.175G>A (p.Glu59Lys)	SOCS4 (E59K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291610	NM_199421.2(SOCS4):c.182C>A (p.Ser61Tyr)	SOCS4 (S61Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232925	NM_199421.2(SOCS4):c.185T>C (p.Leu62Ser)	SOCS4 (L62S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456820	NM_199421.2(SOCS4):c.295G>A (p.Val99Met)	SOCS4 (V99M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260732	NM_199421.2(SOCS4):c.301C>A (p.Gln101Lys)	SOCS4 (Q101K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455881	NM_199421.2(SOCS4):c.373A>C (p.Ser125Arg)	SOCS4 (S125R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167404	NM_199421.2(SOCS4):c.389A>G (p.Asp130Gly)	SOCS4 (D130G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536185	NM_199421.2(SOCS4):c.439A>G (p.Ile147Val)	SOCS4 (I147V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323224	NM_199421.2(SOCS4):c.470A>C (p.Lys157Thr)	SOCS4 (K157T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257022	NM_199421.2(SOCS4):c.491C>G (p.Thr164Arg)	SOCS4 (T164R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 730044	NM_199421.2(SOCS4):c.525G>A (p.Gln175=)	SOCS4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2209545	NM_199421.2(SOCS4):c.575A>G (p.Asn192Ser)	SOCS4 (N192S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2250159	NM_199421.2(SOCS4):c.583C>T (p.Pro195Ser)	SOCS4 (P195S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313566	NM_199421.2(SOCS4):c.599C>A (p.Thr200Asn)	SOCS4 (T200N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167406	NM_199421.2(SOCS4):c.621A>T (p.Glu207Asp)	SOCS4 (E207D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472296	NM_199421.2(SOCS4):c.662A>C (p.Asn221Thr)	SOCS4 (N221T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469476	NM_199421.2(SOCS4):c.679G>C (p.Asp227His)	SOCS4 (D227H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479334	NM_199421.2(SOCS4):c.703C>G (p.Leu235Val)	SOCS4 (L235V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227567	NM_199421.2(SOCS4):c.724A>G (p.Arg242Gly)	SOCS4 (R242G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235617	NM_199421.2(SOCS4):c.787A>G (p.Lys263Glu)	SOCS4 (K263E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600125	NM_199421.2(SOCS4):c.845A>G (p.Asn282Ser)	SOCS4 (N282S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167408	NM_199421.2(SOCS4):c.847A>C (p.Asn283His)	SOCS4 (N283H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321400	NM_199421.2(SOCS4):c.880T>C (p.Tyr294His)	SOCS4 (Y294H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482717	NM_199421.2(SOCS4):c.886G>A (p.Ala296Thr)	SOCS4 (A296T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167409	NM_199421.2(SOCS4):c.985C>T (p.Arg329Cys)	SOCS4 (R329C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321399	NM_199421.2(SOCS4):c.989C>G (p.Ser330Cys)	SOCS4 (S330C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548934	NM_199421.2(SOCS4):c.1071T>G (p.Ile357Met)	SOCS4 (I357M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353302	NM_199421.2(SOCS4):c.1211A>G (p.Asp404Gly)	SOCS4 (D404G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507906	NM_199421.2(SOCS4):c.1219G>A (p.Asp407Asn)	SOCS4 (D407N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167401	NM_199421.2(SOCS4):c.1281A>C (p.Lys427Asn)	SOCS4 (K427N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2684714	GRCh37/hg19 14q11.2-23.1(chr14:20511673-61826023)x3	ABHD12B, ABHD4 +289 more	Copy number gain	not provided	GPathogenic
Select item 1707441	GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2	AREL1, ARF6 +447 more	Copy number gain	See cases	GPathogenic
Select item 1527818	GRCh37/hg19 14q22.1-22.3(chr14:53241194-55803026)	BMP4, CDKN3 +15 more	Copy number loss	not specified	GPathogenic
Select item 1162192	GRCh37/hg19 14q22.2-24.3(chr14:54654001-75828024)x3	ISCA2, TMEM30B +158 more	Copy number gain	14q22.2q24.3 duplication	GLikely pathogenic
Select item 564132	GRCh37/hg19 14q22.2-22.3(chr14:54530302-55812050)x3	GCH1, LGALS3 +10 more	Copy number gain	not provided	GUncertain significance
Select item 443977	GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	GTF2A1, GZMB +624 more	Copy number gain	See cases	GPathogenic
Select item 395470	GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3	ABCD4, ABHD12B +635 more	Copy number gain	See cases	GPathogenic

ClinVar

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Items: 46