25760[HGNC] - ClinVar

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Items: 49

	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 155443	GRCh38/hg38 3p21.31(chr3:48950685-49171381)x4	ARIH2, CCDC71 +34 more	Copy number gain	See cases	GUncertain significance
Select item 3139333	NM_022903.4(CCDC71):c.1363G>A (p.Val455Ile)	CCDC71 (V455I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376981	NM_022903.4(CCDC71):c.1345C>T (p.Arg449Cys)	CCDC71 (R449C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264278	NM_022903.4(CCDC71):c.1328G>A (p.Arg443Gln)	CCDC71 (R443Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3139332	NM_022903.4(CCDC71):c.1280G>A (p.Arg427His)	CCDC71 (R427H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264282	NM_022903.4(CCDC71):c.1229G>A (p.Arg410Gln)	CCDC71 (R410Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390365	NM_022903.4(CCDC71):c.1216C>T (p.Arg406Trp)	CCDC71 (R406W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299010	NM_022903.4(CCDC71):c.1187C>T (p.Ala396Val)	CCDC71 (A396V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359998	NM_022903.4(CCDC71):c.1169G>A (p.Arg390Lys)	CCDC71 (R390K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400372	NM_022903.4(CCDC71):c.1160G>A (p.Gly387Glu)	CCDC71 (G387E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299009	NM_022903.4(CCDC71):c.1145G>A (p.Arg382His)	CCDC71 (R382H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2282105	NM_022903.4(CCDC71):c.1133G>A (p.Gly378Asp)	CCDC71 (G378D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261813	NM_022903.4(CCDC71):c.1118G>A (p.Arg373Lys)	CCDC71 (R373K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139329	NM_022903.4(CCDC71):c.1069C>T (p.Arg357Trp)	CCDC71 (R357W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139328	NM_022903.4(CCDC71):c.1064T>C (p.Val355Ala)	CCDC71 (V355A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139337	NM_022903.4(CCDC71):c.880C>T (p.Arg294Cys)	CCDC71 (R294C)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3264279	NM_022903.4(CCDC71):c.860G>A (p.Arg287Gln)	CCDC71 (R287Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329453	NM_022903.4(CCDC71):c.842C>G (p.Ala281Gly)	CCDC71 (A281G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225851	NM_022903.4(CCDC71):c.806G>A (p.Arg269Gln)	CCDC71 (R269Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3139336	NM_022903.4(CCDC71):c.803G>A (p.Arg268Gln)	CCDC71 (R268Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3264283	NM_022903.4(CCDC71):c.802C>T (p.Arg268Trp)	CCDC71 (R268W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495931	NM_022903.4(CCDC71):c.784A>T (p.Thr262Ser)	CCDC71 (T262S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472895	NM_022903.4(CCDC71):c.749G>A (p.Arg250Gln)	CCDC71 (R250Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3264277	NM_022903.4(CCDC71):c.703G>T (p.Gly235Cys)	CCDC71 (G235C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526050	NM_022903.4(CCDC71):c.677A>G (p.Lys226Arg)	CCDC71 (K226R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489862	NM_022903.4(CCDC71):c.670C>T (p.Arg224Trp)	CCDC71 (R224W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264281	NM_022903.4(CCDC71):c.668C>T (p.Pro223Leu)	CCDC71 (P223L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470308	NM_022903.4(CCDC71):c.596A>G (p.Gln199Arg)	CCDC71 (Q199R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259575	NM_022903.4(CCDC71):c.478G>A (p.Gly160Ser)	CCDC71 (G160S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252992	NM_022903.4(CCDC71):c.383C>T (p.Ala128Val)	CCDC71 (A128V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139335	NM_022903.4(CCDC71):c.376G>A (p.Ala126Thr)	CCDC71 (A126T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487864	NM_022903.4(CCDC71):c.320T>C (p.Met107Thr)	CCDC71 (M107T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239719	NM_022903.4(CCDC71):c.314C>G (p.Thr105Ser)	CCDC71 (T105S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264280	NM_022903.4(CCDC71):c.251C>T (p.Thr84Met)	CCDC71 (T84M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338074	NM_022903.4(CCDC71):c.220A>G (p.Ser74Gly)	CCDC71 (S74G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139334	NM_022903.4(CCDC71):c.197G>A (p.Arg66His)	CCDC71 (R66H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139330	NM_022903.4(CCDC71):c.113G>A (p.Ser38Asn)	CCDC71 (S38N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3246864	NC_000003.11:g.(?_48895920)_(49570632_?)del	SLC25A20, TCTA +23 more	Deletion	Carnitine acylcarnitine translocase deficiency +2 more	GPathogenic
Select item 3246860	NC_000003.11:g.(?_48895143)_(49213234_?)del	ARIH2, ARIH2OS +13 more	Deletion	Carnitine acylcarnitine translocase deficiency	GPathogenic
Select item 1527017	GRCh37/hg19 3p21.31(chr3:49060512-49678685)	AMT, BSN +17 more	Copy number gain	not specified	GUncertain significance
Select item 1068732	NC_000003.11:g.(?_48507870)_(50340407_?)del	AMIGO3, AMT +62 more	Deletion	Chilblain lupus 1 +2 more	GPathogenic
Select item 980510	GRCh37/hg19 3p21.31-21.2(chr3:48807193-51363558)x1	AMIGO3, AMT +64 more	Copy number loss	not provided	GPathogenic
Select item 833037	NC_000003.12:g.(?_49121216)_(49533209_?)del	AMT, C3orf62 +11 more	Deletion	Pierson syndrome +1 more	GPathogenic
Select item 814442	GRCh37/hg19 3p21.31(chr3:48346677-49630228)x1	PRKAR2A, ATRIP +42 more	Copy number loss	not provided	GPathogenic
Select item 625696	GRCh37/hg19 3p21.31-21.1(chr3:45153770-53878616)	APEH, HEMK1 +177 more	Copy number gain	not provided	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 253356	GRCh37/hg19 3p22.2-21.31(chr3:37028313-49929220)x3	ABHD5, ACAA1 +177 more	Copy number gain	See cases	GLikely pathogenic

ClinVar

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Items: 49