11094[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC126860438, LOC126860439 +3663 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	AARD, ABRA +3663 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC105379224, LOC105379230 +3657 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC129999966, LOC129999967 +3111 more	Copy number gain	See cases	GPathogenic
Select item 150770	GRCh38/hg38 8p12-q12.1(chr8:36580103-59618998)x3	ADAM18, ADAM2 +543 more	Copy number gain	See cases	GPathogenic
Select item 59783	GRCh38/hg38 8p11.22-q11.21(chr8:39830633-49209461)x3	ADAM2, ANK1 +184 more	Copy number gain	See cases	GPathogenic
Select item 144238	GRCh38/hg38 8q11.1-13.2(chr8:46031334-69303787)x3	ADHFE1, ALKAL1 +491 more	Copy number gain	See cases	GPathogenic
Select item 150723	GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3	LOC126860489, LOC126860490 +1963 more	Copy number gain	See cases	GPathogenic
Select item 153587	GRCh38/hg38 8q11.21-11.23(chr8:47338394-52753188)x3	ALKAL1, CEBPD +90 more	Copy number gain	See cases	GUncertain significance
Select item 912051	NM_003068.5(SNAI2):c.*1111G>T	SNAI2	Single nucleotide variant (3 prime UTR variant)	Piebaldism	GUncertain significance
Select item 912052	NM_003068.5(SNAI2):c.*1026G>A	SNAI2	Single nucleotide variant (3 prime UTR variant)	Piebaldism	GUncertain significance
Select item 363257	NM_003068.5(SNAI2):c.*964G>A	SNAI2	Single nucleotide variant (3 prime UTR variant)	Piebaldism	GUncertain significance
Select item 909144	NM_003068.5(SNAI2):c.*919T>C	SNAI2	Single nucleotide variant (3 prime UTR variant)	Piebaldism	GUncertain significance
Select item 363258	NM_003068.5(SNAI2):c.*773C>A	SNAI2	Single nucleotide variant (3 prime UTR variant)	Piebaldism	GUncertain significance
Select item 909145	NM_003068.5(SNAI2):c.*512T>C	SNAI2	Single nucleotide variant (3 prime UTR variant)	Piebaldism	GUncertain significance
Select item 909146	NM_003068.5(SNAI2):c.*429G>A	SNAI2	Single nucleotide variant (3 prime UTR variant)	Piebaldism	GUncertain significance
Select item 909147	NM_003068.5(SNAI2):c.*428C>T	SNAI2	Single nucleotide variant (3 prime UTR variant)	Piebaldism	GUncertain significance
Select item 909148	NM_003068.5(SNAI2):c.*420C>A	SNAI2	Single nucleotide variant (3 prime UTR variant)	Piebaldism	GUncertain significance
Select item 363259	NM_003068.5(SNAI2):c.*340T>G	SNAI2	Single nucleotide variant (3 prime UTR variant)	Piebaldism	GUncertain significance
Select item 363260	NM_003068.5(SNAI2):c.*334T>G	SNAI2	Single nucleotide variant (3 prime UTR variant)	Piebaldism	GUncertain significance
Select item 363261	NM_003068.5(SNAI2):c.*149C>A	SNAI2	Single nucleotide variant (3 prime UTR variant)	Piebaldism	GLikely benign
Select item 909989	NM_003068.5(SNAI2):c.*129G>T	SNAI2	Single nucleotide variant (3 prime UTR variant)	Piebaldism	GUncertain significance
Select item 909990	NM_003068.5(SNAI2):c.*46C>T	SNAI2	Single nucleotide variant (3 prime UTR variant)	Piebaldism	GUncertain significance
Select item 363262	NM_003068.5(SNAI2):c.*26C>T	SNAI2	Single nucleotide variant (3 prime UTR variant)	Piebaldism	GUncertain significance
Select item 7504	NG_012130.1:g.(?_5165)_(7623_?)del	SNAI2	Deletion	Piebaldism	GUncertain significance
Select item 7503	NG_012130.1:g.(?_5165)_(7623_?)del	SNAI2	Deletion	Waardenburg syndrome type 2D	GUncertain significance
Select item 3166838	NM_003068.5(SNAI2):c.763C>G (p.Leu255Val)	SNAI2 (L255V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 363263	NM_003068.5(SNAI2):c.729C>T (p.Cys243=)	SNAI2	Single nucleotide variant (synonymous variant)	Piebaldism	GUncertain significance
Select item 1367551	NM_003068.5(SNAI2):c.725A>G (p.Gln242Arg)	SNAI2 (Q242R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1940287	NM_003068.5(SNAI2):c.660A>G (p.Arg220=)	SNAI2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1993285	NM_003068.5(SNAI2):c.626-3C>G	SNAI2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2956889	NM_003068.5(SNAI2):c.626-19dup	SNAI2	Duplication (intron variant)	not provided	GBenign
Select item 1225681	NM_003068.5(SNAI2):c.625+206T>C	SNAI2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1571615	NM_003068.5(SNAI2):c.606A>T (p.Gly202=)	SNAI2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 363264	NM_003068.5(SNAI2):c.606A>G (p.Gly202=)	SNAI2	Single nucleotide variant (synonymous variant)	Piebaldism +2 more	GBenign/Likely benign
Select item 1695230	NM_003068.5(SNAI2):c.589C>T (p.Pro197Ser)	SNAI2 (P197S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3321094	NM_003068.5(SNAI2):c.586A>G (p.Arg196Gly)	SNAI2 (R196G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2973971	NM_003068.5(SNAI2):c.579G>C (p.Ala193=)	SNAI2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 666922	NM_003068.5(SNAI2):c.571G>A (p.Gly191Ser)	SNAI2 (G191S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2906154	NM_003068.5(SNAI2):c.516C>T (p.Gly172=)	SNAI2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2532673	NM_003068.5(SNAI2):c.510C>G (p.Ser170Arg)	SNAI2 (S170R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2810323	NM_003068.5(SNAI2):c.472T>C (p.Ser158Pro)	SNAI2 (S158P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1422978	NM_003068.5(SNAI2):c.440A>G (p.Lys147Arg)	SNAI2 (K147R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2732315	NM_003068.5(SNAI2):c.435A>G (p.Lys145=)	SNAI2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2785577	NM_003068.5(SNAI2):c.417T>G (p.Thr139=)	SNAI2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2877137	NM_003068.5(SNAI2):c.414A>G (p.Ser138=)	SNAI2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2899788	NM_003068.5(SNAI2):c.408C>T (p.Thr136=)	SNAI2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1960993	NM_003068.5(SNAI2):c.401A>G (p.Asn134Ser)	SNAI2 (N134S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2070645	NM_003068.5(SNAI2):c.368T>C (p.Ile123Thr)	SNAI2 (I123T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 708042	NM_003068.5(SNAI2):c.365C>T (p.Ala122Val)	SNAI2 (A122V)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 1686331	NM_003068.5(SNAI2):c.364G>A (p.Ala122Thr)	SNAI2 (A122T)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 2015206	NM_003068.5(SNAI2):c.361C>T (p.His121Tyr)	SNAI2 (H121Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2136665	NM_003068.5(SNAI2):c.357C>A (p.Asp119Glu)	SNAI2 (D119E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1499688	NM_003068.5(SNAI2):c.349C>T (p.Leu117Phe)	SNAI2 (L117F)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 805490	NM_003068.5(SNAI2):c.341A>C (p.Gln114Pro)	SNAI2 (Q114P)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2782713	NM_003068.5(SNAI2):c.300T>C (p.Ser100=)	SNAI2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 909991	NM_003068.5(SNAI2):c.281C>T (p.Thr94Ile)	SNAI2 (T94I)	Single nucleotide variant (missense variant)	Piebaldism	GUncertain significance
Select item 1560402	NM_003068.5(SNAI2):c.264C>T (p.Pro88=)	SNAI2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2495281	NM_003068.5(SNAI2):c.262C>A (p.Pro88Thr)	SNAI2 (P88T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 716553	NM_003068.5(SNAI2):c.261T>C (p.Ser87=)	SNAI2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 363265	NM_003068.5(SNAI2):c.257T>C (p.Val86Ala)	SNAI2 (V86A)	Single nucleotide variant (missense variant)	Piebaldism +1 more	GUncertain significance
Select item 2069089	NM_003068.5(SNAI2):c.255A>G (p.Arg85=)	SNAI2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2958593	NM_003068.5(SNAI2):c.253C>A (p.Arg85=)	SNAI2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2807187	NM_003068.5(SNAI2):c.247T>A (p.Leu83Met)	SNAI2 (L83M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 910880	NM_003068.5(SNAI2):c.237C>T (p.Tyr79=)	SNAI2	Single nucleotide variant (synonymous variant)	Piebaldism	GUncertain significance
Select item 2838706	NM_003068.5(SNAI2):c.232G>A (p.Gly78Arg)	SNAI2 (G78R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1576512	NM_003068.5(SNAI2):c.231C>T (p.Ser77=)	SNAI2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1315727	NM_003068.5(SNAI2):c.230C>G (p.Ser77Cys)	SNAI2 (S77C)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 514408	NM_003068.5(SNAI2):c.228T>G (p.Leu76=)	SNAI2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 363266	NM_003068.5(SNAI2):c.219C>T (p.Leu73=)	SNAI2	Single nucleotide variant (synonymous variant)	Piebaldism	GUncertain significance
Select item 1597237	NM_003068.5(SNAI2):c.201C>T (p.Ala67=)	SNAI2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2353109	NM_003068.5(SNAI2):c.199G>T (p.Ala67Ser)	SNAI2 (A67S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 795900	NM_003068.5(SNAI2):c.198C>T (p.His66=)	SNAI2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3321095	NM_003068.5(SNAI2):c.170C>G (p.Thr57Ser)	SNAI2 (T57S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321093	NM_003068.5(SNAI2):c.169A>T (p.Thr57Ser)	SNAI2 (T57S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2094799	NM_003068.5(SNAI2):c.157T>C (p.Tyr53His)	SNAI2 (Y53H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 778395	NM_003068.5(SNAI2):c.146G>A (p.Ser49Asn)	SNAI2 (S49N)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 363267	NM_003068.5(SNAI2):c.130C>A (p.Gln44Lys)	SNAI2 (Q44K)	Single nucleotide variant (missense variant)	Piebaldism +1 more	GUncertain significance
Select item 2791410	NM_003068.5(SNAI2):c.118C>T (p.Pro40Ser)	SNAI2 (P40S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2749504	NM_003068.5(SNAI2):c.109T>G (p.Tyr37Asp)	SNAI2 (Y37D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1986897	NM_003068.5(SNAI2):c.105G>A (p.Glu35=)	SNAI2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 910881	NM_003068.5(SNAI2):c.105G>C (p.Glu35Asp)	SNAI2 (E35D)	Single nucleotide variant (missense variant)	Piebaldism	GUncertain significance
Select item 681165	NM_003068.5(SNAI2):c.93G>A (p.Pro31=)	SNAI2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1902053	NM_003068.5(SNAI2):c.80-14C>T	SNAI2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1286101	NM_003068.5(SNAI2):c.80-277C>T	SNAI2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2493041	NM_003068.5(SNAI2):c.59G>A (p.Ser20Asn)	SNAI2 (S20N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1581558	NM_003068.5(SNAI2):c.48G>A (p.Lys16=)	SNAI2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1490583	NM_003068.5(SNAI2):c.35A>G (p.Asn12Ser)	SNAI2 (N12S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2172870	NM_003068.5(SNAI2):c.34A>G (p.Asn12Asp)	SNAI2 (N12D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1551412	NM_003068.5(SNAI2):c.21C>T (p.Val7=)	SNAI2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 363268	NM_003068.5(SNAI2):c.-9G>T	SNAI2	Single nucleotide variant (5 prime UTR variant)	Piebaldism	GUncertain significance
Select item 363269	NM_003068.5(SNAI2):c.-13A>T	SNAI2	Single nucleotide variant (5 prime UTR variant)	Piebaldism	GUncertain significance
Select item 514698	NM_003068.5(SNAI2):c.-17C>T	SNAI2	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 363270	NM_003068.5(SNAI2):c.-36T>A	SNAI2	Single nucleotide variant (5 prime UTR variant)	Piebaldism	GUncertain significance
Select item 912102	NM_003068.5(SNAI2):c.-40C>G	SNAI2	Single nucleotide variant (5 prime UTR variant)	Piebaldism	GUncertain significance
Select item 363271	NM_003068.5(SNAI2):c.-77C>A	SNAI2	Single nucleotide variant (5 prime UTR variant)	Piebaldism	GUncertain significance
Select item 363272	NM_003068.5(SNAI2):c.-82C>A	SNAI2	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GLikely benign
Select item 363273	NM_003068.5(SNAI2):c.-102C>A	SNAI2	Single nucleotide variant (5 prime UTR variant)	Piebaldism +1 more	GLikely benign

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