ClinVar for Gene (Select 6448) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3363892	NM_000199.5(SGSH):c.329T>A (p.Leu110Gln)	SGSH (L110Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3362306	NM_000199.5(SGSH):c.1361A>G (p.Asp454Gly)	SGSH (D454G)	Single nucleotide variant (missense variant +2 more)	Mucopolysaccharidosis, MPS-III-A	GLikely pathogenic
Select item 3339485	NM_000199.5(SGSH):c.1092C>G (p.Ser364Arg)	SGSH (S364R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3339137	NM_000199.5(SGSH):c.726C>G (p.Thr242=)	SGSH	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3263301	NM_001366385.1(CARD14):c.2722G>T (p.Asp908Tyr)	CARD14, SGSH (D908Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3263299	NM_001366385.1(CARD14):c.2042T>G (p.Ile681Ser)	CARD14, SGSH (I681S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3256113	NM_000199.5(SGSH):c.822C>G (p.Asn274Lys)	SGSH (N274K)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-III-A	GLikely pathogenic
Select item 3251421	NM_000199.5(SGSH):c.845G>A (p.Arg282Lys)	SGSH (R282K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3242941	NC_000017.10:g.(?_76109229)_(78367298_?)dup	AFMID, BIRC5 +29 more	Duplication	Idiopathic generalized epilepsy	GUncertain significance
Select item 3242930	NC_000017.10:g.(?_78184251)_(78188957_?)del	SGSH	Deletion	Mucopolysaccharidosis, MPS-III-A	GPathogenic
Select item 3242929	NC_000017.10:g.(?_78193958)_(78194112_?)del	SGSH	Deletion	Mucopolysaccharidosis, MPS-III-A	GPathogenic
Select item 3242928	NC_000017.10:g.(?_78184251)_(78194112_?)del	SGSH	Deletion	Mucopolysaccharidosis, MPS-III-A	GPathogenic
Select item 3242916	NC_000017.10:g.(?_78163532)_(78194112_?)dup	CARD14, SGSH	Duplication	Psoriasis 2 +1 more	GUncertain significance
Select item 3240458	NM_000199.5(SGSH):c.1401del (p.Gln467fs)	SGSH (Q467fs)	Deletion (frameshift variant +2 more)	Mucopolysaccharidosis, MPS-III-A	GLikely pathogenic
Select item 3240457	NM_000199.5(SGSH):c.1290C>A (p.Tyr430Ter)	SGSH (Y430*)	Single nucleotide variant (nonsense +2 more)	Mucopolysaccharidosis, MPS-III-A	GLikely pathogenic
Select item 3240456	NM_000199.5(SGSH):c.247C>T (p.Gln83Ter)	SGSH (Q83*)	Single nucleotide variant (nonsense +1 more)	Mucopolysaccharidosis, MPS-III-A	GLikely pathogenic
Select item 3240455	NM_000199.5(SGSH):c.763C>T (p.Gln255Ter)	SGSH (Q255*)	Single nucleotide variant (nonsense +1 more)	Mucopolysaccharidosis, MPS-III-A	GPathogenic
Select item 3240454	NM_000199.5(SGSH):c.453del (p.Asn151fs)	SGSH (N151fs)	Deletion (frameshift variant +1 more)	Mucopolysaccharidosis, MPS-III-A	GLikely pathogenic
Select item 3240453	NM_000199.5(SGSH):c.506+2T>A	SGSH	Single nucleotide variant (splice donor variant)	Mucopolysaccharidosis, MPS-III-A	GLikely pathogenic
Select item 3240452	NM_000199.5(SGSH):c.1367_1368del (p.Arg456fs)	SGSH (R456fs)	Microsatellite (frameshift variant +2 more)	Mucopolysaccharidosis, MPS-III-A	GLikely pathogenic
Select item 3233921	NM_000199.5(SGSH):c.1176C>G (p.Phe392Leu)	SGSH (F392L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3161055	NM_000199.5(SGSH):c.31C>G (p.Leu11Val)	SGSH (L11V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3161054	NM_000199.5(SGSH):c.295A>G (p.Asn99Asp)	SGSH (N99D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3161053	NM_000199.5(SGSH):c.1484G>C (p.Cys495Ser)	SGSH (C495S)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3161052	NM_000199.5(SGSH):c.1358C>G (p.Thr453Ser)	SGSH (T453S)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3137301	NM_001366385.1(CARD14):c.2078G>T (p.Gly693Val)	CARD14, SGSH (G693V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3064735	NM_000199.5(SGSH):c.381del (p.Pro128fs)	SGSH (P128fs)	Deletion (frameshift variant +1 more)	Mucopolysaccharidosis, MPS-III-A	GLikely pathogenic
Select item 3042687	NM_001366385.1(CARD14):c.1979-26_1979-16del	CARD14, SGSH	Microsatellite (intron variant)	CARD14-related disorder	GLikely benign
Select item 3032076	NM_000199.5(SGSH):c.950-88C>T	SGSH	Single nucleotide variant (synonymous variant +1 more)	SGSH-related disorder	GLikely benign
Select item 3019671	NM_000199.5(SGSH):c.1278C>T (p.Asp426=)	SGSH	Single nucleotide variant (3 prime UTR variant +2 more)	Mucopolysaccharidosis, MPS-III-A	GLikely benign
Select item 3009303	NM_000199.5(SGSH):c.277C>T (p.Gln93Ter)	SGSH (Q93*)	Single nucleotide variant (nonsense)	Mucopolysaccharidosis, MPS-III-A	GPathogenic
Select item 3007418	NM_000199.5(SGSH):c.506+14C>G	SGSH	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-III-A	GLikely benign
Select item 3004153	NM_000199.5(SGSH):c.833_834del (p.Phe278fs)	SGSH (F278fs)	Deletion (frameshift variant +1 more)	Mucopolysaccharidosis, MPS-III-A	GPathogenic
Select item 3002267	NM_000199.5(SGSH):c.249+14G>A	SGSH	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-III-A	GLikely benign
Select item 2999406	NM_000199.5(SGSH):c.351C>T (p.Arg117=)	SGSH	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-III-A	GLikely benign
Select item 2998891	NM_000199.5(SGSH):c.745+20C>T	SGSH	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-III-A	GLikely benign
Select item 2992827	NM_000199.5(SGSH):c.48del (p.Leu17fs)	SGSH (L17fs)	Deletion (frameshift variant +1 more)	Mucopolysaccharidosis, MPS-III-A	GPathogenic
Select item 2990537	NM_000199.5(SGSH):c.192C>T (p.Phe64=)	SGSH	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis, MPS-III-A	GLikely benign
Select item 2989361	NM_000199.5(SGSH):c.333C>T (p.Leu111=)	SGSH	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-III-A	GLikely benign
Select item 2988055	NM_000199.5(SGSH):c.411G>C (p.Ala137=)	SGSH	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis, MPS-III-A	GLikely benign
Select item 2974080	NM_000199.5(SGSH):c.723C>G (p.Thr241=)	SGSH	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis, MPS-III-A	GLikely benign
Select item 2971590	NM_000199.5(SGSH):c.873T>C (p.Ala291=)	SGSH	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis, MPS-III-A	GLikely benign
Select item 2971020	NM_000199.5(SGSH):c.356-14C>G	SGSH	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-III-A	GLikely benign
Select item 2969862	NM_000199.5(SGSH):c.249+28G>A	SGSH	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-III-A	GLikely benign
Select item 2966142	NM_000199.5(SGSH):c.849C>T (p.Thr283=)	SGSH	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis, MPS-III-A	GLikely benign
Select item 2957185	NM_000199.5(SGSH):c.288C>T (p.His96=)	SGSH	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-III-A	GLikely benign
Select item 2954343	NM_001366385.1(CARD14):c.1920G>A (p.Val640=)	CARD14, SGSH	Single nucleotide variant (synonymous variant +1 more)	Pityriasis rubra pilaris +1 more	GLikely benign
Select item 2953539	NM_001366385.1(CARD14):c.2857G>T (p.Ala953Ser)	CARD14, SGSH (A953S)	Single nucleotide variant (missense variant +1 more)	Pityriasis rubra pilaris +1 more	GUncertain significance
Select item 2952629	NM_001366385.1(CARD14):c.2283+14G>A	CARD14, SGSH	Single nucleotide variant (intron variant)	Pityriasis rubra pilaris +1 more	GLikely benign
Select item 2952468	NM_001366385.1(CARD14):c.2891C>T (p.Pro964Leu)	CARD14, SGSH (P964L)	Single nucleotide variant (missense variant +1 more)	Pityriasis rubra pilaris +1 more	GUncertain significance
Select item 2950818	NM_001366385.1(CARD14):c.1964A>T (p.Lys655Met)	CARD14, SGSH (K655M)	Single nucleotide variant (missense variant +1 more)	Pityriasis rubra pilaris +1 more	GUncertain significance
Select item 2950376	NM_001366385.1(CARD14):c.2271C>T (p.Thr757=)	CARD14, SGSH	Single nucleotide variant (synonymous variant +1 more)	Pityriasis rubra pilaris +1 more	GLikely benign
Select item 2950012	NM_001366385.1(CARD14):c.2220-19C>A	CARD14, SGSH	Single nucleotide variant (intron variant)	Pityriasis rubra pilaris +1 more	GLikely benign
Select item 2948945	NM_001366385.1(CARD14):c.2777C>G (p.Ser926Cys)	CARD14, SGSH (S926C)	Single nucleotide variant (missense variant +1 more)	Pityriasis rubra pilaris +1 more	GUncertain significance
Select item 2948872	NM_001366385.1(CARD14):c.2587G>A (p.Glu863Lys)	CARD14, LOC126862662 +1 more (E863K)	Single nucleotide variant (missense variant +1 more)	Pityriasis rubra pilaris +1 more	GUncertain significance
Select item 2948842	NM_001366385.1(CARD14):c.2261A>T (p.Gln754Leu)	CARD14, SGSH (Q754L)	Single nucleotide variant (missense variant +1 more)	Pityriasis rubra pilaris +1 more	GUncertain significance
Select item 2948286	NM_001366385.1(CARD14):c.2882A>C (p.Asp961Ala)	CARD14, SGSH (D961A)	Single nucleotide variant (missense variant +1 more)	Pityriasis rubra pilaris +1 more	GUncertain significance
Select item 2947933	NM_001366385.1(CARD14):c.2807+2T>C	CARD14, SGSH	Single nucleotide variant (splice donor variant)	Pityriasis rubra pilaris +1 more	GUncertain significance
Select item 2947797	NM_001366385.1(CARD14):c.2544C>G (p.Leu848=)	CARD14, LOC126862662 +1 more	Single nucleotide variant (synonymous variant +1 more)	Pityriasis rubra pilaris +1 more	GLikely benign
Select item 2947693	NM_001366385.1(CARD14):c.2628G>A (p.Glu876=)	CARD14, LOC126862662 +1 more	Single nucleotide variant (synonymous variant +1 more)	Pityriasis rubra pilaris +1 more	GLikely benign
Select item 2947587	NM_001366385.1(CARD14):c.2448T>A (p.Tyr816Ter)	CARD14, LOC126862662 +1 more (Y816*)	Single nucleotide variant (nonsense +1 more)	Pityriasis rubra pilaris +1 more	GUncertain significance
Select item 2947285	NM_001366385.1(CARD14):c.2292T>C (p.Ser764=)	CARD14, SGSH	Single nucleotide variant (synonymous variant +1 more)	Pityriasis rubra pilaris +1 more	GLikely benign
Select item 2947266	NM_001366385.1(CARD14):c.2005G>A (p.Glu669Lys)	CARD14, SGSH (E669K)	Single nucleotide variant (missense variant +1 more)	Pityriasis rubra pilaris +1 more	GUncertain significance
Select item 2946878	NM_001366385.1(CARD14):c.2918A>G (p.Asp973Gly)	CARD14, SGSH (D973G)	Single nucleotide variant (missense variant +1 more)	Pityriasis rubra pilaris +1 more	GUncertain significance
Select item 2946312	NM_001366385.1(CARD14):c.2836G>A (p.Glu946Lys)	CARD14, SGSH (E946K)	Single nucleotide variant (missense variant +1 more)	Pityriasis rubra pilaris +1 more	GUncertain significance
Select item 2946272	NM_001366385.1(CARD14):c.2658G>T (p.Val886=)	CARD14, LOC126862662 +1 more	Single nucleotide variant (synonymous variant +1 more)	Pityriasis rubra pilaris +1 more	GLikely benign
Select item 2944743	NM_001366385.1(CARD14):c.2845C>A (p.Leu949Ile)	CARD14, SGSH (L949I)	Single nucleotide variant (missense variant +1 more)	Pityriasis rubra pilaris +1 more	GUncertain significance
Select item 2943536	NM_001366385.1(CARD14):c.2567C>T (p.Ala856Val)	SGSH, CARD14 +1 more (A856V)	Single nucleotide variant (missense variant +1 more)	Pityriasis rubra pilaris +1 more	GUncertain significance
Select item 2943281	NM_001366385.1(CARD14):c.2409G>T (p.Thr803=)	CARD14, LOC126862662 +1 more	Single nucleotide variant (synonymous variant +1 more)	Pityriasis rubra pilaris +1 more	GLikely benign
Select item 2942648	NM_001366385.1(CARD14):c.2220-13C>A	CARD14, SGSH	Single nucleotide variant (intron variant)	Pityriasis rubra pilaris +1 more	GLikely benign
Select item 2942597	NM_001366385.1(CARD14):c.2598C>G (p.Ala866=)	CARD14, LOC126862662 +1 more	Single nucleotide variant (synonymous variant +1 more)	Pityriasis rubra pilaris +1 more	GLikely benign
Select item 2942276	NM_001366385.1(CARD14):c.1869A>G (p.Ser623=)	CARD14, SGSH	Single nucleotide variant (synonymous variant +1 more)	Pityriasis rubra pilaris +1 more	GLikely benign
Select item 2942034	NM_001366385.1(CARD14):c.2437C>T (p.Leu813=)	CARD14, LOC126862662 +1 more	Single nucleotide variant (synonymous variant +1 more)	Pityriasis rubra pilaris +1 more	GLikely benign
Select item 2941848	NM_001366385.1(CARD14):c.1858T>A (p.Tyr620Asn)	CARD14, SGSH (Y620N)	Single nucleotide variant (missense variant +1 more)	Pityriasis rubra pilaris +1 more	GUncertain significance
Select item 2940756	NM_001366385.1(CARD14):c.1852-11C>T	CARD14, SGSH	Single nucleotide variant (intron variant)	Pityriasis rubra pilaris +1 more	GLikely benign
Select item 2940023	NM_001366385.1(CARD14):c.2456T>C (p.Val819Ala)	SGSH, CARD14 +1 more (V819A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2939204	NM_001366385.1(CARD14):c.2691+16G>T	CARD14, LOC126862662 +1 more	Single nucleotide variant (intron variant)	Pityriasis rubra pilaris +1 more	GLikely benign
Select item 2939152	NM_001366385.1(CARD14):c.2877C>T (p.Asp959=)	CARD14, SGSH	Single nucleotide variant (synonymous variant +1 more)	Pityriasis rubra pilaris +1 more	GLikely benign
Select item 2938715	NM_001366385.1(CARD14):c.2408C>G (p.Thr803Arg)	CARD14, LOC126862662 +1 more (T803R)	Single nucleotide variant (missense variant +1 more)	Pityriasis rubra pilaris +1 more	GUncertain significance
Select item 2938711	NM_001366385.1(CARD14):c.2807+8C>A	CARD14, SGSH	Single nucleotide variant (intron variant)	Pityriasis rubra pilaris +1 more	GLikely benign
Select item 2938474	NM_001366385.1(CARD14):c.2220-3_2220-2dup	CARD14, SGSH	Duplication (splice acceptor variant)	Pityriasis rubra pilaris +1 more	GUncertain significance
Select item 2938310	NM_001366385.1(CARD14):c.2117C>T (p.Thr706Ile)	CARD14, SGSH (T706I)	Single nucleotide variant (missense variant +1 more)	Pityriasis rubra pilaris +1 more	GUncertain significance
Select item 2937857	NM_001366385.1(CARD14):c.2377T>G (p.Leu793Val)	CARD14, SGSH (L793V)	Single nucleotide variant (missense variant +1 more)	Pityriasis rubra pilaris +1 more	GUncertain significance
Select item 2937337	NM_001366385.1(CARD14):c.2533C>A (p.Leu845Met)	CARD14, LOC126862662 +1 more (L845M)	Single nucleotide variant (missense variant +1 more)	Pityriasis rubra pilaris +1 more	GUncertain significance
Select item 2937190	NM_001366385.1(CARD14):c.2538C>A (p.Cys846Ter)	CARD14, LOC126862662 +1 more (C846*)	Single nucleotide variant (nonsense +1 more)	Pityriasis rubra pilaris +1 more	GUncertain significance
Select item 2937158	NM_001366385.1(CARD14):c.2481_2482delinsTT (p.Arg828Trp)	CARD14, LOC126862662 +1 more (R828W)	Indel (missense variant +1 more)	Pityriasis rubra pilaris +1 more	GUncertain significance
Select item 2936637	NM_001366385.1(CARD14):c.2538C>G (p.Cys846Trp)	CARD14, LOC126862662 +1 more (C846W)	Single nucleotide variant (missense variant +1 more)	Pityriasis rubra pilaris +1 more	GUncertain significance
Select item 2936442	NM_001366385.1(CARD14):c.2066G>A (p.Gly689Asp)	CARD14, SGSH (G689D)	Single nucleotide variant (missense variant +1 more)	Pityriasis rubra pilaris +1 more	GUncertain significance
Select item 2936327	NM_001366385.1(CARD14):c.2126T>C (p.Met709Thr)	CARD14, SGSH (M709T)	Single nucleotide variant (missense variant +1 more)	Pityriasis rubra pilaris +1 more	GUncertain significance
Select item 2935932	NM_001366385.1(CARD14):c.2691+19T>G	CARD14, LOC126862662 +1 more	Single nucleotide variant (intron variant)	Pityriasis rubra pilaris +1 more	GLikely benign
Select item 2935707	NM_001366385.1(CARD14):c.1965G>A (p.Lys655=)	CARD14, SGSH	Single nucleotide variant (synonymous variant +1 more)	Pityriasis rubra pilaris +1 more	GUncertain significance
Select item 2935387	NM_001366385.1(CARD14):c.2958C>T (p.Arg986=)	CARD14, SGSH	Single nucleotide variant (synonymous variant +1 more)	Pityriasis rubra pilaris +1 more	GLikely benign
Select item 2932707	NM_001366385.1(CARD14):c.2019G>T (p.Ala673=)	CARD14, SGSH	Single nucleotide variant (synonymous variant +1 more)	Pityriasis rubra pilaris +1 more	GLikely benign
Select item 2932079	NM_001366385.1(CARD14):c.2503del (p.Arg835fs)	CARD14, LOC126862662 +1 more (R835fs)	Deletion (frameshift variant +1 more)	Pityriasis rubra pilaris +1 more	GUncertain significance
Select item 2931551	NM_001366385.1(CARD14):c.1978+12A>C	CARD14, SGSH	Single nucleotide variant (intron variant)	Pityriasis rubra pilaris +1 more	GLikely benign
Select item 2931347	NM_001366385.1(CARD14):c.2168C>A (p.Ser723Tyr)	CARD14, SGSH (S723Y)	Single nucleotide variant (missense variant +1 more)	Pityriasis rubra pilaris +1 more	GUncertain significance
Select item 2930806	NM_001366385.1(CARD14):c.2957G>A (p.Arg986His)	CARD14, SGSH (R986H)	Single nucleotide variant (missense variant +1 more)	Pityriasis rubra pilaris +1 more	GUncertain significance
Select item 2930419	NM_001366385.1(CARD14):c.2197G>A (p.Gly733Ser)	CARD14, SGSH (G733S)	Single nucleotide variant (missense variant +1 more)	Pityriasis rubra pilaris +1 more	GUncertain significance
Select item 2930080	NM_001366385.1(CARD14):c.1882A>G (p.Lys628Glu)	CARD14, SGSH (K628E)	Single nucleotide variant (missense variant +1 more)	Pityriasis rubra pilaris +1 more	GUncertain significance
Select item 2930073	NM_001366385.1(CARD14):c.2244C>T (p.Leu748=)	CARD14, SGSH	Single nucleotide variant (synonymous variant +1 more)	Pityriasis rubra pilaris +1 more	GLikely benign

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