ClinVar for Gene (Select 9655) - ClinVar

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Items: 50

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2622164	NM_144949.3(SOCS5):c.1021C>T (p.Arg341Cys)	SOCS5 (R341C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2606547	NM_144949.3(SOCS5):c.56T>A (p.Phe19Tyr)	SOCS5 (F19Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2600947	NM_144949.3(SOCS5):c.1448G>A (p.Ser483Asn)	SOCS5 (S483N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2592571	NM_144949.3(SOCS5):c.527C>G (p.Ser176Cys)	SOCS5 (S176C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2553723	NM_144949.3(SOCS5):c.182A>C (p.Glu61Ala)	SOCS5 (E61A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2548435	NM_144949.3(SOCS5):c.94A>G (p.Met32Val)	SOCS5 (M32V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2509577	NM_144949.3(SOCS5):c.58G>A (p.Gly20Ser)	SOCS5 (G20S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2494176	NM_144949.3(SOCS5):c.1358C>A (p.Thr453Lys)	SOCS5 (T453K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2476681	NM_144949.3(SOCS5):c.1510C>T (p.Leu504Phe)	SOCS5 (L504F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2466049	NM_144949.3(SOCS5):c.313G>A (p.Gly105Arg)	SOCS5 (G105R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2422665	NC_000002.11:g.(?_38121051)_(47710088_?)dup	ABCG5, ABCG8 +52 more	Duplication	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 2409983	NM_144949.3(SOCS5):c.941G>A (p.Ser314Asn)	SOCS5 (S314N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2408158	NM_144949.3(SOCS5):c.499G>A (p.Val167Ile)	SOCS5 (V167I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2405658	NM_144949.3(SOCS5):c.244T>G (p.Cys82Gly)	SOCS5 (C82G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2401084	NM_144949.3(SOCS5):c.584G>A (p.Ser195Asn)	SOCS5 (S195N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2379096	NM_144949.3(SOCS5):c.614A>G (p.Lys205Arg)	SOCS5 (K205R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2357798	NM_144949.3(SOCS5):c.58G>C (p.Gly20Arg)	SOCS5 (G20R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2351285	NM_144949.3(SOCS5):c.17A>G (p.Lys6Arg)	SOCS5 (K6R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2344331	NM_144949.3(SOCS5):c.151A>G (p.Thr51Ala)	SOCS5 (T51A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2326550	NM_144949.3(SOCS5):c.854A>G (p.His285Arg)	SOCS5 (H285R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2296547	NM_144949.3(SOCS5):c.401G>A (p.Ser134Asn)	SOCS5 (S134N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2262264	NM_144949.3(SOCS5):c.1240C>A (p.Leu414Ile)	SOCS5 (L414I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2260689	NM_144949.3(SOCS5):c.172C>A (p.Pro58Thr)	SOCS5 (P58T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2249225	NM_144949.3(SOCS5):c.415G>C (p.Asp139His)	SOCS5 (D139H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2240533	NM_144949.3(SOCS5):c.1033G>A (p.Gly345Arg)	SOCS5 (G345R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2227701	NM_144949.3(SOCS5):c.283G>A (p.Glu95Lys)	SOCS5 (E95K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2216423	NM_144949.3(SOCS5):c.472G>C (p.Val158Leu)	SOCS5 (V158L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2212990	NM_144949.3(SOCS5):c.126G>C (p.Glu42Asp)	SOCS5 (E42D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2208420	NM_144949.3(SOCS5):c.472G>A (p.Val158Ile)	SOCS5 (V158I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1708190	GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1	ACTG2, ACTR1B +529 more	Copy number loss	See cases	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1180436	NC_000002.12:g.46722010_46985532dup	LOC129933679, LOC129933680 +19 more	Duplication	not specified	Gnot provided
Select item 814243	GRCh37/hg19 2p21(chr2:46179259-47646894)x3	TTC7A, ATP6V1E2 +13 more	Copy number gain	not provided	GUncertain significance
Select item 784983	NM_144949.3(SOCS5):c.1476C>T (p.Ile492=)	SOCS5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 720047	NM_144949.3(SOCS5):c.57C>T (p.Phe19=)	SOCS5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 711818	NM_144949.3(SOCS5):c.1140C>A (p.Pro380=)	SOCS5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 562680	GRCh37/hg19 2p22.3-16.1(chr2:34792916-56676541)x3	ABCG5, ABCG8 +100 more	Copy number gain	not provided	GPathogenic
Select item 562630	GRCh37/hg19 2p21(chr2:46557702-47744377)x3	CALM2, ATP6V1E2 +12 more	Copy number gain	not provided	GUncertain significance
Select item 562629	GRCh37/hg19 2p21-16.3(chr2:46978055-48131152)x3	EPCAM, FBXO11 +10 more	Copy number gain	not provided	GUncertain significance
Select item 524189	Single allele	ACMSD, C2orf27A +486 more	Deletion	not provided	GLikely pathogenic
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	DCAF17, DCDC2C +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	AAK1, AAMP +1214 more	Copy number gain	See cases	GPathogenic
Select item 429039	NC_000002.11:g.38121110_47669522inv	EPCAM, MCFD2 +52 more	Inversion	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 402127	GRCh37/hg19 2p23.3-16.1(chr2:27861707-60790985)x3	ABCG5, ABCG8 +139 more	Copy number gain	See cases	GPathogenic
Select item 154531	GRCh38/hg38 2p21(chr2:46573689-46732838)x3	CRIPT, LOC129933670 +8 more	Copy number gain	See cases	GBenign
Select item 153532	GRCh38/hg38 2p21-16.3(chr2:46415109-48203207)x3	LOC129933677, LOC129933678 +104 more	Copy number gain	See cases	GUncertain significance
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	LOC129934199, LOC129934200 +2457 more	Copy number gain	See cases	GBenign
Select item 148501	GRCh38/hg38 2p21(chr2:46592232-47488001)x3	BCYRN1, CALM2 +53 more	Copy number gain	See cases	GLikely benign
Select item 59143	GRCh38/hg38 2p22.1-16.1(chr2:40738282-57863821)x3	ABCG5, ABCG8 +443 more	Copy number gain	See cases	GPathogenic
Select item 59133	GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3	LOC129933242, LOC129933243 +1631 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 50