5949[geneid] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 1120

<< First< Prev

Page of 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152998	GRCh38/hg38 10p15.1-q11.22(chr10:4604734-48074662)x3	ABI1, ACBD5 +1221 more	Copy number gain	See cases	GBenign
Select item 154900	GRCh38/hg38 10q11.21-21.3(chr10:42112187-67400675)x3	A1CF, ADO +561 more	Copy number gain	See cases	GPathogenic
Select item 145479	GRCh38/hg38 10q11.21-11.23(chr10:42395201-50877059)x3	LOC130003758, LOC130003759 +309 more	Copy number gain	See cases	GPathogenic
Select item 145481	GRCh38/hg38 10q11.21-22.2(chr10:42685306-73715908)x3	A1CF, ADAMTS14 +902 more	Copy number gain	See cases	GPathogenic
Select item 144977	GRCh38/hg38 10q11.21-21.1(chr10:42884294-52265317)x3	FAM170B, FAM170B-AS1 +306 more	Copy number gain	See cases	GPathogenic
Select item 2498203	NC_000010.11:g.45704708_(49974954_50015268)del	AGAP4, AGAP6 +122 more	Deletion	10q11.22q11.23 deletion syndrome	GLikely pathogenic
Select item 154709	GRCh38/hg38 10q11.22-11.23(chr10:45710242-49929364)x1	AGAP10, AGAP4 +118 more	Copy number loss	See cases	GPathogenic
Select item 58543	GRCh38/hg38 10q11.22-11.23(chr10:45710242-50151325)x1	AGAP10, AGAP4 +125 more	Copy number loss	See cases	GPathogenic
Select item 146781	GRCh38/hg38 10q11.22-11.23(chr10:45710248-50021141)x1	RBP3, SLC18A3 +123 more	Copy number loss	See cases	GPathogenic
Select item 151967	GRCh38/hg38 10q11.22-11.23(chr10:45788078-50066466)x1	AGAP10, AGAP4 +122 more	Copy number loss	See cases	GUncertain significance
Select item 3235900	GRCh38/hg38 10q11.22-11.23(chr10:45795500-50134000)	AGAP4, AGAP6 +122 more	Copy number loss	Pulmonary arterial hypertension	GLikely pathogenic
Select item 148682	GRCh38/hg38 10q11.22-11.23(chr10:45810008-50066466)x1	AGAP10, AGAP4 +121 more	Copy number loss	See cases	GLikely pathogenic
Select item 154220	GRCh38/hg38 10q11.22-11.23(chr10:45931517-50035809)x3	AGAP10, AGAP6 +119 more	Copy number gain	See cases	GUncertain significance
Select item 150121	GRCh38/hg38 10q11.22-11.23(chr10:45931517-49929364)x1	AGAP10, AGAP9 +114 more	Copy number loss	See cases	GLikely pathogenic
Select item 149971	GRCh38/hg38 10q11.22-11.23(chr10:45931517-49929364)x1	AGAP9, ANTXRL +113 more	Copy number loss	See cases	GLikely pathogenic
Select item 144985	GRCh38/hg38 10q11.22-11.23(chr10:45931517-49929364)x1	AGAP10, AGAP9 +114 more	Copy number loss	See cases	GPathogenic
Select item 58551	GRCh38/hg38 10q11.22-11.23(chr10:45931517-50655311)x1	AGAP6, AGAP9 +147 more	Copy number loss	See cases	GPathogenic
Select item 150503	GRCh38/hg38 10q11.22-11.23(chr10:45999930-49937908)x1	AGAP9, ANTXRL +112 more	Copy number loss	See cases	GLikely pathogenic
Select item 58548	GRCh38/hg38 10q11.22-11.23(chr10:45999930-49937908)x1	AGAP9, ANTXRL +112 more	Copy number loss	See cases	GUncertain significance
Select item 57411	GRCh38/hg38 10q11.22-11.23(chr10:45999930-49937908)x3	AGAP9, ANTXRL +112 more	Copy number gain	See cases	GPathogenic
Select item 150650	GRCh38/hg38 10q11.22(chr10:46146977-47987500)x3	AGAP10, AGAP9 +35 more	Copy number gain	See cases	GBenign
Select item 146825	GRCh38/hg38 10q11.22(chr10:46146977-47987500)x3	AGAP9, ANTXRL +34 more	Copy number gain	See cases	GBenign
Select item 545135	Single allele	LOC130003791, LOC130003792 +109 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 161043	GRCh38/hg38 10q11.22(chr10:46157935-47923579)x1	AGAP10, AGAP9 +34 more	Copy number loss	See cases	GBenign
Select item 161022	GRCh38/hg38 10q11.22(chr10:46157935-47923579)x3	AGAP10, AGAP9 +34 more	Copy number gain	See cases	GBenign
Select item 160988	GRCh38/hg38 10q11.22(chr10:46157935-47923579)x3	AGAP10, AGAP9 +34 more	Copy number gain	See cases	GBenign
Select item 154864	GRCh38/hg38 10q11.22(chr10:46157935-47923579)x3	AGAP10, AGAP9 +34 more	Copy number gain	See cases	GBenign
Select item 154844	GRCh38/hg38 10q11.22(chr10:46157935-47923579)x1	AGAP10, AGAP9 +34 more	Copy number loss	See cases	GBenign
Select item 150698	GRCh38/hg38 10q11.22(chr10:46157935-47923579)x3	AGAP9, ANTXRL +33 more	Copy number gain	See cases	GBenign
Select item 150663	GRCh38/hg38 10q11.22(chr10:46157935-47923579)x3	AGAP10, AGAP9 +34 more	Copy number gain	See cases	GBenign
Select item 150472	GRCh38/hg38 10q11.22(chr10:46157935-47923579)x3	AGAP10, AGAP9 +34 more	Copy number gain	See cases	GBenign
Select item 150205	GRCh38/hg38 10q11.22(chr10:46157935-47923579)x3	AGAP10, AGAP9 +34 more	Copy number gain	See cases	GBenign
Select item 149982	GRCh38/hg38 10q11.22(chr10:46157935-47923579)x3	AGAP10, AGAP9 +34 more	Copy number gain	See cases	GBenign
Select item 149897	GRCh38/hg38 10q11.22(chr10:46157935-47923579)x3	AGAP10, AGAP9 +34 more	Copy number gain	See cases	GBenign
Select item 148133	GRCh38/hg38 10q11.22(chr10:46157935-47923579)x3	AGAP10, AGAP9 +34 more	Copy number gain	See cases	GBenign
Select item 148103	GRCh38/hg38 10q11.22(chr10:46157935-48054380)x3	AGAP10, AGAP9 +36 more	Copy number gain	See cases	GBenign
Select item 147214	GRCh38/hg38 10q11.22(chr10:46157935-47923579)x3	AGAP10, AGAP9 +34 more	Copy number gain	See cases	GBenign
Select item 146806	GRCh38/hg38 10q11.22(chr10:46157935-47923579)x1	AGAP10, AGAP9 +34 more	Copy number loss	See cases	GBenign
Select item 146805	GRCh38/hg38 10q11.22(chr10:46157935-47923579)x3	AGAP10, AGAP9 +34 more	Copy number gain	See cases	GBenign
Select item 146700	GRCh38/hg38 10q11.22(chr10:46157935-47923579)x3	AGAP10, AGAP9 +34 more	Copy number gain	See cases	GBenign
Select item 145488	GRCh38/hg38 10q11.22(chr10:46157935-47923579)x3	AGAP10, AGAP9 +34 more	Copy number gain	See cases	GBenign
Select item 145457	GRCh38/hg38 10q11.22(chr10:46157935-47923579)x3	AGAP10, AGAP9 +34 more	Copy number gain	See cases	GBenign
Select item 144354	GRCh38/hg38 10q11.22(chr10:46157935-47923579)x3	AGAP10, AGAP9 +34 more	Copy number gain	See cases	GBenign
Select item 144187	GRCh38/hg38 10q11.22(chr10:46157935-47923579)x3	AGAP9, ANTXRL +33 more	Copy number gain	See cases	GBenign
Select item 33676	GRCh38/hg38 10q11.22(chr10:46157935-47923579)x3	AGAP10, AGAP9 +34 more	Copy number gain	See cases	GBenign
Select item 32820	GRCh38/hg38 10q11.22(chr10:46157935-47923579)x3	AGAP10, AGAP9 +34 more	Copy number gain	See cases	GBenign
Select item 32321	GRCh38/hg38 10q11.22(chr10:46157935-47923579)x3	AGAP10, AGAP9 +34 more	Copy number gain	See cases	GBenign
Select item 32317	GRCh38/hg38 10q11.22(chr10:46157935-47923579)x3	AGAP10, AGAP9 +34 more	Copy number gain	See cases	GBenign
Select item 31951	GRCh38/hg38 10q11.22(chr10:46157935-47923579)x1	GDF2, GPRIN2 +34 more	Copy number loss	See cases	GBenign
Select item 154978	GRCh38/hg38 10q11.22(chr10:46375049-47987500)x3	AGAP10, AGAP9 +30 more	Copy number gain	See cases	GBenign
Select item 154430	GRCh38/hg38 10q11.22(chr10:46375049-47987500)x3	AGAP9, ANXA8 +29 more	Copy number gain	See cases	GBenign
Select item 153030	GRCh38/hg38 10q11.22(chr10:46375049-47987500)x3	AGAP10, AGAP9 +30 more	Copy number gain	See cases	GBenign
Select item 32955	GRCh38/hg38 10q11.22(chr10:46375049-47987500)x1	AGAP9, ANXA8 +29 more	Copy number loss	See cases	GBenign
Select item 148137	GRCh38/hg38 10q11.22(chr10:46489780-47923579)x1	AGAP10, AGAP9 +26 more	Copy number loss	See cases	GBenign
Select item 145472	GRCh38/hg38 10q11.22(chr10:46489780-47923579)x3	AGAP10, AGAP9 +26 more	Copy number gain	See cases	GBenign/Likely benign
Select item 145409	GRCh38/hg38 10q11.22(chr10:46489780-47923579)x3	SYT15B, ZNF488 +26 more	Copy number gain	See cases	GBenign
Select item 154420	GRCh38/hg38 10q11.22(chr10:46490281-47923579)x1	AGAP10, AGAP9 +26 more	Copy number loss	See cases	GBenign
Select item 154419	GRCh38/hg38 10q11.22(chr10:46490281-47923579)x3	AGAP10, AGAP9 +26 more	Copy number gain	See cases	GBenign
Select item 148134	GRCh38/hg38 10q11.22(chr10:46490281-47923579)x3	AGAP10, AGAP9 +26 more	Copy number gain	See cases	GBenign
Select item 145473	GRCh38/hg38 10q11.22(chr10:46490281-47923579)x1	AGAP10, AGAP9 +26 more	Copy number loss	See cases	GBenign
Select item 144481	GRCh38/hg38 10q11.22(chr10:46490281-48074662)x1	AGAP10, AGAP9 +28 more	Copy number loss	See cases	GLikely benign
Select item 299999	NM_002900.3(RBP3):c.-99_-97del	RBP3	Deletion (5 prime UTR variant)	Retinitis Pigmentosa, Recessive	GUncertain significance
Select item 879770	NM_002900.3(RBP3):c.-83G>A	RBP3	Single nucleotide variant (5 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 299998	NM_002900.3(RBP3):c.-13C>T	RBP3	Single nucleotide variant (5 prime UTR variant)	Retinitis pigmentosa +2 more	GBenign
Select item 2043856	NM_002900.3(RBP3):c.2T>C (p.Met1Thr)	RBP3 (M1T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1009522	NM_002900.3(RBP3):c.5T>C (p.Met2Thr)	RBP3 (M2T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1160588	NM_002900.3(RBP3):c.33G>A (p.Val11=)	RBP3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1349677	NM_002900.3(RBP3):c.41G>A (p.Cys14Tyr)	RBP3 (C14Y)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1135430	NM_002900.3(RBP3):c.42T>C (p.Cys14=)	RBP3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 208292	NM_002900.3(RBP3):c.53G>T (p.Gly18Val)	RBP3 (G18V)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 66	GUncertain significance
Select item 1112278	NM_002900.3(RBP3):c.54C>A (p.Gly18=)	RBP3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 725124	NM_002900.3(RBP3):c.57C>T (p.Pro19=)	RBP3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 287295	NM_002900.3(RBP3):c.63C>T (p.His21=)	RBP3	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 1366166	NM_002900.3(RBP3):c.73C>A (p.Pro25Thr)	RBP3 (P25T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1088619	NM_002900.3(RBP3):c.75A>C (p.Pro25=)	RBP3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 299997	NM_002900.3(RBP3):c.78C>T (p.Ser26=)	RBP3	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa +1 more	GBenign/Likely benign
Select item 1084390	NM_002900.3(RBP3):c.79C>T (p.Leu27=)	RBP3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1441313	NM_002900.3(RBP3):c.80T>G (p.Leu27Arg)	RBP3 (L27R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 965123	NM_002900.3(RBP3):c.93G>A (p.Met31Ile)	RBP3 (M31I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1448809	NM_002900.3(RBP3):c.97A>G (p.Lys33Glu)	RBP3 (K33E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1001707	NM_002900.3(RBP3):c.101T>G (p.Val34Gly)	RBP3 (V34G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1485998	NM_002900.3(RBP3):c.118T>G (p.Cys40Gly)	RBP3 (C40G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 722675	NM_002900.3(RBP3):c.120C>T (p.Cys40=)	RBP3	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 497463	NM_002900.3(RBP3):c.126G>A (p.Pro42=)	RBP3	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa +1 more	GConflicting classifications of pathogenicity
Select item 2475584	NM_002900.3(RBP3):c.132C>A (p.Asn44Lys)	RBP3 (N44K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1959301	NM_002900.3(RBP3):c.132C>G (p.Asn44Lys)	RBP3 (N44K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 964958	NM_002900.3(RBP3):c.160C>T (p.Gln54Ter)	RBP3 (Q54*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 1494648	NM_002900.3(RBP3):c.170A>T (p.Lys57Met)	RBP3 (K57M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 844496	NM_002900.3(RBP3):c.176A>G (p.His59Arg)	RBP3 (H59R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1357997	NM_002900.3(RBP3):c.179A>G (p.Glu60Gly)	RBP3 (E60G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 968806	NM_002900.3(RBP3):c.188G>A (p.Ser63Asn)	RBP3 (S63N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1001730	NM_002900.3(RBP3):c.189C>G (p.Ser63Arg)	RBP3 (S63R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1024888	NM_002900.3(RBP3):c.200C>T (p.Pro67Leu)	RBP3 (P67L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1614073	NM_002900.3(RBP3):c.201G>A (p.Pro67=)	RBP3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1512531	NM_002900.3(RBP3):c.206C>T (p.Thr69Met)	RBP3 (T69M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1364352	NM_002900.3(RBP3):c.215G>A (p.Ser72Asn)	RBP3 (S72N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1058301	NM_002900.3(RBP3):c.224C>T (p.Thr75Ile)	RBP3 (T75I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2192290	NM_002900.3(RBP3):c.228C>T (p.Ala76=)	RBP3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2144199	NM_002900.3(RBP3):c.229G>C (p.Gly77Arg)	RBP3 (G77R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1387603	NM_002900.3(RBP3):c.229G>A (p.Gly77Arg)	RBP3 (G77R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

<< First< Prev

Page of 12