4254[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC130008916, LOC130008917 +4836 more	Copy number gain	See cases	GPathogenic
Select item 155032	GRCh38/hg38 12q21.1-22(chr12:73485697-92795805)x1	ACSS3, ALX1 +287 more	Copy number loss	See cases	GPathogenic
Select item 2419488	NM_000899.5(KITLG):c.806_807del (p.Glu269fs)	KITLG (E241fs +1 more)	Microsatellite (frameshift variant)	not provided	GUncertain significance
Select item 2762455	NM_000899.5(KITLG):c.797_798del (p.Lys266fs)	KITLG (K238fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1905057	NM_000899.5(KITLG):c.783-16dup	KITLG	Duplication (intron variant)	not provided	GBenign
Select item 1652122	NM_000899.5(KITLG):c.783-15C>A	KITLG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1211693	NM_000899.5(KITLG):c.783-41T>A	KITLG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 710231	NM_000899.5(KITLG):c.723G>A (p.Gln241=)	KITLG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2504286	NM_000899.5(KITLG):c.715-2A>G	KITLG	Single nucleotide variant (splice acceptor variant)	Autosomal dominant nonsyndromic hearing loss 69 +1 more	GConflicting classifications of pathogenicity
Select item 1284148	NM_000899.5(KITLG):c.715-91C>A	KITLG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1201062	NM_000899.5(KITLG):c.714+24T>A	KITLG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 929966	NM_000899.5(KITLG):c.708C>T (p.Tyr236=)	KITLG	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 1982036	NM_000899.5(KITLG):c.706T>C (p.Tyr236His)	KITLG (Y208H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2892516	NM_000899.5(KITLG):c.699A>G (p.Gly233=)	KITLG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1325962	NM_000899.5(KITLG):c.680T>C (p.Ile227Thr)	KITLG (I199T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3057507	NM_000899.5(KITLG):c.639A>G (p.Leu213=)	KITLG	Single nucleotide variant (synonymous variant)	KITLG-related disorder	GLikely benign
Select item 2778968	NM_000899.5(KITLG):c.639A>T (p.Leu213=)	KITLG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2683211	NM_000899.5(KITLG):c.632C>T (p.Ser211Phe)	KITLG (S183F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1325956	NM_000899.5(KITLG):c.629A>G (p.Asp210Gly)	KITLG (D182G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 508156	NM_000899.5(KITLG):c.628G>T (p.Asp210Tyr)	KITLG (D210Y +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 1194205	NM_000899.5(KITLG):c.604+133T>G	KITLG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1441315	NM_000899.5(KITLG):c.588C>G (p.Asp196Glu)	KITLG (D196E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2164864	NM_000899.5(KITLG):c.573C>T (p.Ser191=)	KITLG	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1693556	NM_000899.5(KITLG):c.550_551del (p.Met184fs)	KITLG (M184fs)	Deletion (frameshift variant +1 more)	Waardenburg syndrome, IIa 2F	GPathogenic
Select item 3033291	NM_000899.5(KITLG):c.547T>C (p.Phe183Leu)	KITLG (F183L)	Single nucleotide variant (missense variant +1 more)	KITLG-related disorder	GUncertain significance
Select item 727115	NM_000899.5(KITLG):c.521-6A>G	KITLG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1426284	NM_000899.5(KITLG):c.519A>G (p.Lys173=)	KITLG	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1436578	NM_000899.5(KITLG):c.509G>A (p.Ser170Asn)	KITLG (S170N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 806921	NM_000899.5(KITLG):c.470C>T (p.Ala157Val)	KITLG (A157V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1693555	NM_000899.5(KITLG):c.443T>C (p.Ile148Thr)	KITLG	Single nucleotide variant (missense variant)	Waardenburg syndrome, IIa 2F	GPathogenic
Select item 1956582	NM_000899.5(KITLG):c.429T>C (p.Ile143=)	KITLG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2768754	NM_000899.5(KITLG):c.424A>T (p.Arg142Ter)	KITLG (R142*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2784683	NM_000899.5(KITLG):c.388C>T (p.Pro130Ser)	KITLG (P130S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1446000	NM_000899.5(KITLG):c.386G>C (p.Ser129Thr)	KITLG (S129T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3061156	NM_000899.5(KITLG):c.375dup (p.Ser126fs)	KITLG (S126fs)	Duplication (frameshift variant)	KITLG-related disorder	GUncertain significance
Select item 2487537	NM_000899.5(KITLG):c.376T>A (p.Ser126Thr)	KITLG (S126T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2636503	NM_000899.5(KITLG):c.365A>G (p.Asp122Gly)	KITLG (D122G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1994913	NM_000899.5(KITLG):c.364-1G>A	KITLG	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 3014312	NM_000899.5(KITLG):c.364-8T>C	KITLG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1221324	NM_000899.5(KITLG):c.364-40G>A	KITLG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268326	NM_000899.5(KITLG):c.364-203C>A	KITLG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1237595	NM_000899.5(KITLG):c.363+16T>A	KITLG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 546160	NM_000899.5(KITLG):c.343G>A (p.Val115Met)	KITLG (V115M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2002522	NM_000899.5(KITLG):c.339G>T (p.Glu113Asp)	KITLG (E113D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2755610	NM_000899.5(KITLG):c.333del (p.Val112fs)	KITLG (V112fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1708119	NM_000899.5(KITLG):c.320T>A (p.Ile107Lys)	KITLG (I107K)	Single nucleotide variant (missense variant)	Hyperpigmentation with or without hypopigmentation, familial progressive	GUncertain significance
Select item 2324938	NM_000899.5(KITLG):c.319A>G (p.Ile107Val)	KITLG (I107V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 218889	NM_000899.5(KITLG):c.310C>G (p.Leu104Val)	KITLG (L104V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 218887	NM_000899.5(KITLG):c.286_303delinsT (p.Leu95_Ser96insTer)	KITLG	Indel (nonsense)	Autosomal dominant nonsyndromic hearing loss 69	GPathogenic
Select item 1320528	NM_000899.5(KITLG):c.281G>C (p.Gly94Ala)	KITLG (G94A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 929967	NM_000899.5(KITLG):c.255G>C (p.Leu85=)	KITLG	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1406105	NM_000899.5(KITLG):c.226C>G (p.Gln76Glu)	KITLG (Q76E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 666626	NM_000899.5(KITLG):c.213C>T (p.Ser71=)	KITLG	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 218888	NM_000899.5(KITLG):c.200_202del (p.His67_Cys68delinsArg)	KITLG	Deletion (inframe_indel)	Autosomal dominant nonsyndromic hearing loss 69	GPathogenic
Select item 2762857	NM_000899.5(KITLG):c.193-1G>A	KITLG	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 2998990	NM_000899.5(KITLG):c.193-11A>T	KITLG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2782306	NM_000899.5(KITLG):c.193-16T>G	KITLG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1316563	NM_000899.5(KITLG):c.193-44A>G	KITLG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1266538	NM_000899.5(KITLG):c.192+245A>G	KITLG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289822	NM_000899.5(KITLG):c.192+146G>A	KITLG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 452867	NM_000899.5(KITLG):c.178G>A (p.Gly60Arg)	KITLG (G60R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 508598	NM_000899.5(KITLG):c.177C>T (p.Pro59=)	KITLG	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 726999	NM_000899.5(KITLG):c.160A>G (p.Thr54Ala)	KITLG (T54A)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 2577328	NM_000899.5(KITLG):c.151_153del (p.Tyr51del)	KITLG (Y51del)	Deletion (inframe_deletion)	not specified +1 more	GUncertain significance
Select item 682989	NM_000899.5(KITLG):c.130-10G>T	KITLG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 517646	NM_000899.5(KITLG):c.130-11dup	KITLG	Duplication (intron variant)	not provided +4 more	GBenign/Likely benign
Select item 1272999	NM_000899.5(KITLG):c.130-11del	KITLG	Deletion (intron variant)	not provided	GBenign
Select item 1242709	NM_000899.5(KITLG):c.130-22A>T	KITLG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230735	NM_000899.5(KITLG):c.129+22G>A	KITLG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1214956	NM_000899.5(KITLG):c.129+21C>T	KITLG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1563792	NM_000899.5(KITLG):c.129+14G>C	KITLG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1195125	NM_000899.5(KITLG):c.121A>C (p.Thr41Pro)	KITLG (T41P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1710166	NM_000899.5(KITLG):c.108T>G (p.Asn36Lys)	KITLG (N36K)	Single nucleotide variant (missense variant)	Hyperpigmentation with or without hypopigmentation, familial progressive	GPathogenic
Select item 379240	NM_000899.5(KITLG):c.108T>A (p.Asn36Lys)	KITLG (N36K)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 12813	NM_000899.5(KITLG):c.107A>G (p.Asn36Ser)	KITLG (N36S)	Single nucleotide variant (missense variant)	Hyperpigmentation with or without hypopigmentation, familial progressive	GPathogenic
Select item 1803991	NM_000899.5(KITLG):c.106A>C (p.Asn36His)	KITLG (N36H)	Single nucleotide variant (missense variant)	Hyperpigmentation with or without hypopigmentation, familial progressive	GLikely pathogenic
Select item 1955257	NM_000899.5(KITLG):c.103A>G (p.Asn35Asp)	KITLG (N35D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 183169	NM_000899.5(KITLG):c.100A>C (p.Thr34Pro)	KITLG (T34P)	Single nucleotide variant (missense variant)	Hyperpigmentation with or without hypopigmentation, familial progressive	GPathogenic
Select item 183168	NM_000899.5(KITLG):c.98T>C (p.Val33Ala)	KITLG (V33A)	Single nucleotide variant (missense variant)	Hyperpigmentation with or without hypopigmentation, familial progressive	GPathogenic
Select item 1693554	NM_000899.5(KITLG):c.94C>T (p.Arg32Cys)	KITLG	Single nucleotide variant (missense variant)	Waardenburg syndrome, IIa 2F	GPathogenic
Select item 2502550	NM_000899.5(KITLG):c.67G>A (p.Val23Ile)	KITLG (V23I)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2196273	NM_000899.5(KITLG):c.66C>T (p.Leu22=)	KITLG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2582079	NM_000899.5(KITLG):c.63T>A (p.Pro21=)	KITLG	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1316082	NM_000899.5(KITLG):c.58A>T (p.Asn20Tyr)	KITLG (N20Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1521926	NM_000899.5(KITLG):c.49C>T (p.Leu17Phe)	KITLG (L17F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3253013	NM_000899.5(KITLG):c.34A>G (p.Ile12Val)	KITLG (I12V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2584392	NM_000899.5(KITLG):c.16-2A>G	KITLG	Single nucleotide variant (splice acceptor variant)	Autosomal dominant nonsyndromic hearing loss 69	GLikely pathogenic
Select item 1185703	NM_000899.5(KITLG):c.16-119T>A	KITLG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1258930	NM_000899.5(KITLG):c.16-137G>A	KITLG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1321471	NM_000899.5(KITLG):c.16-138C>A	KITLG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1272782	NM_000899.5(KITLG):c.16-148A>G	KITLG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1195743	NM_000899.5(KITLG):c.15+279C>A	KITLG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2735223	NM_000899.5(KITLG):c.15+8G>C	KITLG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2504592	NM_000899.5(KITLG):c.15+6T>C	KITLG	Single nucleotide variant (intron variant)	Waardenburg syndrome, IIa 2F	GUncertain significance
Select item 666603	NM_000899.5(KITLG):c.15+2T>A	KITLG	Single nucleotide variant (splice donor variant)	not specified	GUncertain significance
Select item 1318832	NM_000899.5(KITLG):c.9G>A (p.Lys3=)	KITLG	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1705594	NM_000899.5(KITLG):c.2T>A (p.Met1Lys)	KITLG (M1K)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant nonsyndromic hearing loss 69	GUncertain significance
Select item 513634	NM_000899.5(KITLG):c.-16A>C	KITLG	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 1230363	NC_000012.12:g.88580488C>A	KITLG	Single nucleotide variant	not provided	GBenign
Select item 12812	NC_000012.12:g.88905969C>T	KITLG	Single nucleotide variant	SKIN/HAIR/EYE PIGMENTATION 7, DARK/LIGHT SKIN	GAffects

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