153562[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149824	GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3	LOC123497907, LOC123497908 +1445 more	Copy number gain	See cases	GPathogenic
Select item 800723	GRCh38/hg38 5q11.2-13.2(chr5:58785203-73519962)x1	LINC02219, LINC02229 +265 more	Copy number loss	Intellectual disability	GLikely pathogenic
Select item 146335	GRCh38/hg38 5q12.1-13.2(chr5:63207112-71291191)x3	ADAMTS6, AK6 +139 more	Copy number gain	See cases	GLikely pathogenic
Select item 57512	GRCh38/hg38 5q12.3-13.2(chr5:64932763-69495504)x1	ADAMTS6, AK6 +115 more	Copy number loss	See cases	GPathogenic
Select item 154729	GRCh38/hg38 5q12.3-13.2(chr5:65976124-71317474)x3	AK6, CCDC125 +101 more	Copy number gain	See cases	GUncertain significance
Select item 1509649	NM_001038603.3(MARVELD2):c.7A>G (p.Asn3Asp)	MARVELD2 (N3D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 195109	NM_001038603.3(MARVELD2):c.30G>A (p.Arg10=)	MARVELD2	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 3007738	NM_001038603.3(MARVELD2):c.37C>T (p.Arg13Cys)	MARVELD2 (R13C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 354078	NM_001038603.3(MARVELD2):c.38G>A (p.Arg13His)	MARVELD2 (R13H)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 49	GUncertain significance
Select item 2428988	NM_001038603.3(MARVELD2):c.43G>A (p.Asp15Asn)	MARVELD2 (D15N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 995179	NM_001038603.3(MARVELD2):c.54A>T (p.Pro18=)	MARVELD2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 354079	NM_001038603.3(MARVELD2):c.57C>T (p.Ser19=)	MARVELD2	Single nucleotide variant (synonymous variant)	Autosomal recessive nonsyndromic hearing loss 49	GUncertain significance
Select item 505090	NM_001038603.3(MARVELD2):c.60C>T (p.Asp20=)	MARVELD2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 43847	NM_001038603.3(MARVELD2):c.98C>T (p.Thr33Ile)	MARVELD2 (T33I)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 504612	NM_001038603.3(MARVELD2):c.115C>T (p.Arg39Trp)	MARVELD2 (R39W)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1946804	NM_001038603.3(MARVELD2):c.132T>C (p.Asp44=)	MARVELD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1879626	NM_001038603.3(MARVELD2):c.153C>T (p.Leu51=)	MARVELD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 515160	NM_001038603.3(MARVELD2):c.156A>G (p.Pro52=)	MARVELD2	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 227542	NM_001038603.3(MARVELD2):c.156A>T (p.Pro52=)	MARVELD2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 287288	NM_001038603.3(MARVELD2):c.176C>T (p.Pro59Leu)	MARVELD2 (P59L)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1621511	NM_001038603.3(MARVELD2):c.186C>T (p.Tyr62=)	MARVELD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2273858	NM_001038603.3(MARVELD2):c.197C>G (p.Thr66Arg)	MARVELD2 (T66R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1325909	NM_001038603.3(MARVELD2):c.199GAA[1] (p.Glu68del)	MARVELD2 (E68del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 179959	NM_001038603.3(MARVELD2):c.211A>G (p.Ile71Val)	MARVELD2 (I71V)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1203484	NM_001038603.3(MARVELD2):c.215C>G (p.Ala72Gly)	MARVELD2 (A72G)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2716302	NM_001038603.3(MARVELD2):c.216G>A (p.Ala72=)	MARVELD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1328627	NM_001038603.3(MARVELD2):c.238C>T (p.Arg80Cys)	MARVELD2 (R80C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1446607	NM_001038603.3(MARVELD2):c.259A>T (p.Lys87Ter)	MARVELD2 (K87*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 908016	NM_001038603.3(MARVELD2):c.273A>T (p.Arg91Ser)	MARVELD2 (R91S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 163962	NM_001038603.3(MARVELD2):c.288C>A (p.Asp96Glu)	MARVELD2 (D96E)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1213474	NM_001038603.3(MARVELD2):c.291C>T (p.Pro97=)	MARVELD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1497686	NM_001038603.3(MARVELD2):c.292G>A (p.Glu98Lys)	MARVELD2 (E98K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 620557	NM_001038603.3(MARVELD2):c.296G>A (p.Trp99Ter)	MARVELD2 (W99*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 227543	NM_001038603.3(MARVELD2):c.306G>A (p.Pro102=)	MARVELD2	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1921731	NM_001038603.3(MARVELD2):c.330C>T (p.Ser110=)	MARVELD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 43845	NM_001038603.3(MARVELD2):c.331G>A (p.Asp111Asn)	MARVELD2 (D111N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2060125	NM_001038603.3(MARVELD2):c.363A>C (p.Pro121=)	MARVELD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 178406	NM_001038603.3(MARVELD2):c.364G>A (p.Ala122Thr)	MARVELD2 (A122T)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 2475407	NM_001038603.3(MARVELD2):c.370C>T (p.Pro124Ser)	MARVELD2 (P124S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 288916	NM_001038603.3(MARVELD2):c.389T>A (p.Leu130His)	MARVELD2 (L130H)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1460943	NM_001038603.3(MARVELD2):c.400A>G (p.Lys134Glu)	MARVELD2 (K134E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2964947	NM_001038603.3(MARVELD2):c.430T>G (p.Phe144Val)	MARVELD2 (F144V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 499919	NM_001038603.3(MARVELD2):c.440G>A (p.Arg147Gln)	MARVELD2 (R147Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 354080	NM_001038603.3(MARVELD2):c.453C>T (p.Asp151=)	MARVELD2	Single nucleotide variant (synonymous variant)	MARVELD2-related condition +2 more	GConflicting classifications of pathogenicity
Select item 354081	NM_001038603.3(MARVELD2):c.454G>A (p.Ala152Thr)	MARVELD2 (A152T)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 49 +1 more	GUncertain significance
Select item 1367727	NM_001038603.3(MARVELD2):c.458T>C (p.Val153Ala)	MARVELD2 (V153A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2475934	NM_001038603.3(MARVELD2):c.467G>A (p.Arg156Gln)	MARVELD2 (R156Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 995178	NM_001038603.3(MARVELD2):c.476A>G (p.Tyr159Cys)	MARVELD2 (Y159C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1254896	NM_001038603.3(MARVELD2):c.490C>T (p.Arg164Ter)	MARVELD2 (R164*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 1341612	NM_001038603.3(MARVELD2):c.491G>A (p.Arg164Gln)	MARVELD2 (R164Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 354082	NM_001038603.3(MARVELD2):c.491G>C (p.Arg164Pro)	MARVELD2 (R164P)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 49	GUncertain significance
Select item 163964	NM_001038603.3(MARVELD2):c.494A>G (p.His165Arg)	MARVELD2 (H165R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 354083	NM_001038603.3(MARVELD2):c.497C>T (p.Thr166Ile)	MARVELD2 (T166I)	Single nucleotide variant (missense variant)	Nonsyndromic Hearing Loss, Recessive	GUncertain significance
Select item 178407	NM_001038603.3(MARVELD2):c.500A>G (p.Gln167Arg)	MARVELD2 (Q167R)	Single nucleotide variant (missense variant)	MARVELD2-related condition +3 more	GConflicting classifications of pathogenicity
Select item 517556	NM_001038603.3(MARVELD2):c.504A>G (p.Thr168=)	MARVELD2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 2981512	NM_001038603.3(MARVELD2):c.508C>T (p.Arg170Ter)	MARVELD2 (R170*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 904707	NM_001038603.3(MARVELD2):c.514T>C (p.Tyr172His)	MARVELD2 (Y172H)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 49	GUncertain significance
Select item 2031281	NM_001038603.3(MARVELD2):c.519T>C (p.Ser173=)	MARVELD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1218762	NM_001038603.3(MARVELD2):c.534G>A (p.Glu178=)	MARVELD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2499344	NM_001038603.3(MARVELD2):c.541C>G (p.Leu181Val)	MARVELD2 (L181V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2785976	NM_001038603.3(MARVELD2):c.564G>A (p.Ser188=)	MARVELD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 178408	NM_001038603.3(MARVELD2):c.585A>G (p.Ile195Met)	MARVELD2 (I195M)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 733290	NM_001038603.3(MARVELD2):c.586C>T (p.Leu196=)	MARVELD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 163967	NM_001038603.3(MARVELD2):c.592G>A (p.Val198Met)	MARVELD2 (V198M)	Single nucleotide variant (missense variant)	not specified +2 more	GLikely benign
Select item 452485	NM_001038603.3(MARVELD2):c.595del (p.Val199fs)	MARVELD2 (V199fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 1299311	NM_001038603.3(MARVELD2):c.608dup (p.Leu203fs)	MARVELD2 (L203fs)	Duplication (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 49	GPathogenic
Select item 43846	NM_001038603.3(MARVELD2):c.615C>T (p.Ala205=)	MARVELD2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 354084	NM_001038603.3(MARVELD2):c.662G>C (p.Trp221Ser)	MARVELD2 (W221S)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 49	GUncertain significance
Select item 2572552	NM_001038603.3(MARVELD2):c.666C>G (p.Tyr222Ter)	MARVELD2 (Y222*)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 49	GPathogenic
Select item 2463859	NM_001038603.3(MARVELD2):c.706G>A (p.Val236Ile)	MARVELD2 (V236I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2405066	NM_001038603.3(MARVELD2):c.716T>G (p.Leu239Trp)	MARVELD2 (L239W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2655506	NM_001038603.3(MARVELD2):c.723T>C (p.Ser241=)	MARVELD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 354085	NM_001038603.3(MARVELD2):c.728A>G (p.Tyr243Cys)	MARVELD2 (Y243C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2854039	NM_001038603.3(MARVELD2):c.732G>A (p.Gly244=)	MARVELD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 354086	NM_001038603.3(MARVELD2):c.743A>G (p.Tyr248Cys)	MARVELD2 (Y248C)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 49	GUncertain significance
Select item 354087	NM_001038603.3(MARVELD2):c.760C>G (p.Pro254Ala)	MARVELD2 (P254A)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 49	GUncertain significance
Select item 227544	NM_001038603.3(MARVELD2):c.771C>T (p.Leu257=)	MARVELD2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1503405	NM_001038603.3(MARVELD2):c.782G>A (p.Gly261Glu)	MARVELD2 (G261E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 817776	NM_001038603.3(MARVELD2):c.799_800del (p.Thr267fs)	MARVELD2 (T267fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2314151	NM_001038603.3(MARVELD2):c.800C>T (p.Thr267Ile)	MARVELD2 (T267I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2869011	NM_001038603.3(MARVELD2):c.801C>T (p.Thr267=)	MARVELD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1356139	NM_001038603.3(MARVELD2):c.802A>G (p.Ile268Val)	MARVELD2 (I268V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 290785	NM_001038603.3(MARVELD2):c.808A>C (p.Ile270Leu)	MARVELD2 (I270L)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2263441	NM_001038603.3(MARVELD2):c.829A>G (p.Met277Val)	MARVELD2 (M277V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 905494	NM_001038603.3(MARVELD2):c.834T>C (p.Tyr278=)	MARVELD2	Single nucleotide variant (synonymous variant)	MARVELD2-related condition +2 more	GConflicting classifications of pathogenicity
Select item 1722870	NM_001038603.3(MARVELD2):c.838C>T (p.Arg280Trp)	MARVELD2 (R280W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 620515	NM_001038603.3(MARVELD2):c.866G>A (p.Trp289Ter)	MARVELD2 (W289*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 228852	NM_001038603.3(MARVELD2):c.868C>T (p.Pro290Ser)	MARVELD2 (P290S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 905495	NM_001038603.3(MARVELD2):c.877G>C (p.Glu293Gln)	MARVELD2 (E293Q)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 49	GUncertain significance
Select item 425344	NM_001038603.3(MARVELD2):c.880_890del (p.Phe294fs)	MARVELD2 (F294fs)	Deletion (frameshift variant)	not provided +1 more	GLikely pathogenic
Select item 1311875	NM_001038603.3(MARVELD2):c.887T>G (p.Ile296Ser)	MARVELD2 (I296S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1640959	NM_001038603.3(MARVELD2):c.891C>T (p.Asn297=)	MARVELD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 178409	NM_001038603.3(MARVELD2):c.898T>A (p.Leu300Met)	MARVELD2 (L300M)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 163968	NM_001038603.3(MARVELD2):c.900G>A (p.Leu300=)	MARVELD2	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2888831	NM_001038603.3(MARVELD2):c.918C>T (p.Ala306=)	MARVELD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 930150	NM_001038603.3(MARVELD2):c.919G>A (p.Ala307Thr)	MARVELD2 (A307T)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2359100	NM_001038603.3(MARVELD2):c.922G>C (p.Ala308Pro)	MARVELD2 (A308P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1334344	NM_001038603.3(MARVELD2):c.932A>G (p.Tyr311Cys)	MARVELD2 (Y311C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 745576	NM_001038603.3(MARVELD2):c.933T>C (p.Tyr311=)	MARVELD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2970042	NM_001038603.3(MARVELD2):c.949C>T (p.Arg317Ter)	MARVELD2 (R317*)	Single nucleotide variant (nonsense)	not provided	GPathogenic

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