126326[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58787	GRCh38/hg38 19p13.3(chr19:233565-4699472)x3	LOC116276498, LOC121627842 +687 more	Copy number gain	See cases	GPathogenic
Select item 154560	GRCh38/hg38 19p13.3(chr19:259395-6795611)x3	ABCA7, ABHD17A +903 more	Copy number gain	See cases	GPathogenic
Select item 145414	GRCh38/hg38 19p13.3(chr19:1549144-4288720)x1	ABHD17A, ADAT3 +387 more	Copy number loss	See cases	GPathogenic
Select item 59081	GRCh38/hg38 19p13.3(chr19:1565575-4108128)x3	ABHD17A, ADAT3 +362 more	Copy number gain	See cases	GPathogenic
Select item 59082	GRCh38/hg38 19p13.3-13.2(chr19:1972245-9648879)x3	LOC130063246, LOC130063247 +810 more	Copy number gain	See cases	GPathogenic
Select item 60070	GRCh38/hg38 19p13.3(chr19:2926238-4051635)x1	APBA3, ATCAY +121 more	Copy number loss	See cases	GPathogenic
Select item 148645	GRCh38/hg38 19p13.3(chr19:3080621-4912622)x3	ANKRD24, APBA3 +223 more	Copy number gain	See cases	GLikely pathogenic
Select item 60233	GRCh38/hg38 19p13.3(chr19:3080621-3730716)x3	CACTIN, CACTIN-AS1 +79 more	Copy number gain	See cases	GUncertain significance
Select item 145080	GRCh38/hg38 19p13.3(chr19:3338024-4833139)x1	LOC121852974, LOC125371451 +193 more	Copy number loss	See cases	GPathogenic
Select item 146498	GRCh38/hg38 19p13.3(chr19:3437996-4039217)x1	APBA3, ATCAY +71 more	Copy number loss	See cases	GPathogenic
Select item 60071	GRCh38/hg38 19p13.3(chr19:3554635-4690965)x1	PIP5K1C, PLIN4 +142 more	Copy number loss	See cases	GPathogenic
Select item 1264459	NC_000019.10:g.3585336C>T	GIPC3	Single nucleotide variant	not provided	GBenign
Select item 1237719	NM_133261.3(GIPC3):c.-77G>A	GIPC3	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1202043	NM_133261.3(GIPC3):c.-46G>C	GIPC3	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 517174	NM_133261.3(GIPC3):c.-15C>T	GIPC3	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 1185057	NM_133261.3(GIPC3):c.3_594del (p.Met1fs)	GIPC3 (M1fs)	Deletion (frameshift variant +3 more)	Autosomal recessive nonsyndromic hearing loss 15	GLikely pathogenic
Select item 505606	NM_133261.3(GIPC3):c.4G>A (p.Glu2Lys)	GIPC3 (E2K)	Single nucleotide variant (missense variant)	GIPC3-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 1906379	NM_133261.3(GIPC3):c.14C>A (p.Ala5Glu)	GIPC3 (A5E)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 517411	NM_133261.3(GIPC3):c.20G>A (p.Arg7Gln)	GIPC3 (R7Q)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 3025910	NM_133261.3(GIPC3):c.31G>A (p.Gly11Arg)	GIPC3 (G11R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 228698	NM_133261.3(GIPC3):c.50C>G (p.Ala17Gly)	GIPC3 (A17G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 262317	NM_133261.3(GIPC3):c.57G>T (p.Ala19=)	GIPC3	Single nucleotide variant (synonymous variant)	Autosomal recessive nonsyndromic hearing loss 15 +2 more	GLikely benign
Select item 2138186	NM_133261.3(GIPC3):c.58C>T (p.Pro20Ser)	GIPC3 (P20S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 517599	NM_133261.3(GIPC3):c.66C>T (p.Pro22=)	GIPC3	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 227381	NM_133261.3(GIPC3):c.69G>C (p.Ala23=)	GIPC3	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 163501	NM_133261.3(GIPC3):c.69G>A (p.Ala23=)	GIPC3	Single nucleotide variant (synonymous variant)	Autosomal recessive nonsyndromic hearing loss 15 +2 more	GBenign/Likely benign
Select item 667116	NM_133261.3(GIPC3):c.75G>T (p.Ser25=)	GIPC3	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1372991	NM_133261.3(GIPC3):c.79C>T (p.Pro27Ser)	GIPC3 (P27S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2817300	NM_133261.3(GIPC3):c.81C>G (p.Pro27=)	GIPC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3067408	NM_133261.3(GIPC3):c.85del (p.Ala29fs)	GIPC3 (A29fs)	Deletion (frameshift variant)	Rare genetic deafness +1 more	GConflicting classifications of pathogenicity
Select item 1935078	NM_133261.3(GIPC3):c.94C>G (p.Arg32Gly)	GIPC3 (R32G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1368047	NM_133261.3(GIPC3):c.94C>T (p.Arg32Cys)	GIPC3 (R32C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2420288	NM_133261.3(GIPC3):c.98C>T (p.Ala33Val)	GIPC3 (A33V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2689130	NM_133261.3(GIPC3):c.103C>G (p.Pro35Ala)	GIPC3 (P35A)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 15	GUncertain significance
Select item 3042992	NM_133261.3(GIPC3):c.114C>G (p.Val38=)	GIPC3	Single nucleotide variant (synonymous variant)	GIPC3-related disorder	GLikely benign
Select item 1452886	NM_133261.3(GIPC3):c.121_122del (p.Thr41fs)	GIPC3 (T41fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 163502	NM_133261.3(GIPC3):c.122C>A (p.Thr41Lys)	GIPC3 (T41K)	Single nucleotide variant (missense variant)	Rare genetic deafness +2 more	GConflicting classifications of pathogenicity
Select item 227377	NM_133261.3(GIPC3):c.132G>C (p.Ala44=)	GIPC3	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 30757	NM_133261.3(GIPC3):c.136G>A (p.Gly46Arg)	GIPC3 (G46R)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 15	GPathogenic
Select item 1064964	NM_133261.3(GIPC3):c.137G>A (p.Gly46Glu)	GIPC3 (G46E)	Single nucleotide variant (missense variant)	Hearing impairment	GUncertain significance
Select item 2045102	NM_133261.3(GIPC3):c.138G>C (p.Gly46=)	GIPC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2076741	NM_133261.3(GIPC3):c.147G>A (p.Thr49=)	GIPC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1704974	NM_133261.3(GIPC3):c.172G>A (p.Val58Ile)	GIPC3 (V58I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1914527	NM_133261.3(GIPC3):c.174C>T (p.Val58=)	GIPC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2297760	NM_133261.3(GIPC3):c.176G>T (p.Arg59Leu)	GIPC3 (R59L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 227378	NM_133261.3(GIPC3):c.192G>A (p.Lys64=)	GIPC3	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 179131	NM_133261.3(GIPC3):c.207C>T (p.Phe69=)	GIPC3	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 227379	NM_133261.3(GIPC3):c.213C>A (p.Ile71=)	GIPC3	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 178346	NM_133261.3(GIPC3):c.225+11C>T	GIPC3	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 1661839	NM_133261.3(GIPC3):c.225+13G>A	GIPC3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1272022	NM_133261.3(GIPC3):c.225+126C>T	GIPC3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1226252	NM_133261.3(GIPC3):c.225+219A>G	GIPC3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1245577	NM_133261.3(GIPC3):c.226-22A>G	GIPC3	Single nucleotide variant (intron variant)	Autosomal recessive nonsyndromic hearing loss 15 +1 more	GBenign
Select item 1674413	NM_133261.3(GIPC3):c.226-14_226-12del	GIPC3	Deletion (intron variant)	not provided	GLikely benign
Select item 1331262	NM_133261.3(GIPC3):c.226-12T>C	GIPC3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1563551	NM_133261.3(GIPC3):c.226-11C>T	GIPC3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2713486	NM_133261.3(GIPC3):c.226-9C>T	GIPC3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 504572	NM_133261.3(GIPC3):c.226-7C>G	GIPC3	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1303537	NM_133261.3(GIPC3):c.241C>T (p.Leu81Phe)	GIPC3 (L81F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 506266	NM_133261.3(GIPC3):c.245A>G (p.Asn82Ser)	GIPC3 (N82S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 667241	NM_133261.3(GIPC3):c.271C>T (p.Leu91Phe)	GIPC3 (L91F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 46571	NM_133261.3(GIPC3):c.276G>A (p.Leu92=)	GIPC3	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 179296	NM_133261.3(GIPC3):c.279_295del (p.Gln95fs)	GIPC3 (Q95fs)	Deletion	Rare genetic deafness	GPathogenic
Select item 1311608	NM_133261.3(GIPC3):c.279G>A (p.Gly93=)	GIPC3	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1711963	NM_133261.3(GIPC3):c.281G>T (p.Gly94Val)	GIPC3 (G94V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 163505	NM_133261.3(GIPC3):c.298G>A (p.Asp100Asn)	GIPC3 (D100N)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3099897	NM_133261.3(GIPC3):c.313C>T (p.His105Tyr)	GIPC3 (H105Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 227380	NM_133261.3(GIPC3):c.315C>T (p.His105=)	GIPC3	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1065098	NM_133261.3(GIPC3):c.319C>G (p.Arg107Gly)	GIPC3 (R107G)	Single nucleotide variant (missense variant)	Hearing impairment	GUncertain significance
Select item 667114	NM_133261.3(GIPC3):c.319C>A (p.Arg107=)	GIPC3	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 1027677	NM_133261.3(GIPC3):c.320G>C (p.Arg107Pro)	GIPC3 (R107P)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 15	GUncertain significance
Select item 3044838	NM_133261.3(GIPC3):c.350del (p.Lys117fs)	GIPC3 (K117fs)	Deletion (frameshift variant)	GIPC3-related disorder	GLikely pathogenic
Select item 1963281	NM_133261.3(GIPC3):c.354A>C (p.Thr118=)	GIPC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 286097	NM_133261.3(GIPC3):c.371T>C (p.Leu124Pro)	GIPC3 (L124P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2324254	NM_133261.3(GIPC3):c.373A>G (p.Thr125Ala)	GIPC3 (T125A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 505291	NM_133261.3(GIPC3):c.381G>A (p.Thr127=)	GIPC3	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 620637	NM_133261.3(GIPC3):c.400G>A (p.Ala134Thr)	GIPC3 (A134T)	Single nucleotide variant (missense variant)	Sensorineural hearing loss disorder	GLikely pathogenic
Select item 228349	NM_133261.3(GIPC3):c.411+1G>A	GIPC3	Single nucleotide variant (splice donor variant)	Rare genetic deafness	GPathogenic
Select item 1553731	NM_133261.3(GIPC3):c.411+4C>T	GIPC3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 505222	NM_133261.3(GIPC3):c.411+6C>T	GIPC3	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 508566	NM_133261.3(GIPC3):c.411+10A>G	GIPC3	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1683945	NM_133261.3(GIPC3):c.411+25G>A	GIPC3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1212432	NM_133261.3(GIPC3):c.411+55dup	GIPC3	Duplication (intron variant)	not provided	GLikely benign
Select item 499785	NM_133261.3(GIPC3):c.425G>A (p.Gly142Asp)	GIPC3 (G142D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 163506	NM_133261.3(GIPC3):c.440G>A (p.Arg147Gln)	GIPC3 (R147Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1306815	NM_133261.3(GIPC3):c.494T>C (p.Ile165Thr)	GIPC3 (I165T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2991401	NM_133261.3(GIPC3):c.513C>T (p.Tyr171=)	GIPC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2554246	NM_133261.3(GIPC3):c.533G>A (p.Arg178Gln)	GIPC3 (R178Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 517596	NM_133261.3(GIPC3):c.545A>C (p.Lys182Thr)	GIPC3 (K182T)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 30758	NM_133261.3(GIPC3):c.565C>T (p.Arg189Cys)	GIPC3 (R189C)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 15	GPathogenic
Select item 2057470	NM_133261.3(GIPC3):c.566G>A (p.Arg189His)	GIPC3 (R189H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3067781	NM_133261.3(GIPC3):c.569T>C (p.Leu190Pro)	GIPC3 (L190P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 179107	NM_133261.3(GIPC3):c.576G>A (p.Gln192=)	GIPC3	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1306048	NM_133261.3(GIPC3):c.592G>A (p.Asp198Asn)	GIPC3 (D198N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1029068	NM_133261.3(GIPC3):c.592G>T (p.Asp198Tyr)	GIPC3 (D198Y)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 15	GUncertain significance
Select item 3065869	NM_133261.3(GIPC3):c.592+2T>C	GIPC3	Single nucleotide variant (splice donor variant)	Autosomal recessive nonsyndromic hearing loss 15	GLikely pathogenic
Select item 513838	NM_133261.3(GIPC3):c.592+7C>T	GIPC3	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 738633	NM_133261.3(GIPC3):c.592+10G>T	GIPC3	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1275214	NM_133261.3(GIPC3):c.592+255G>A	GIPC3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279434	NM_133261.3(GIPC3):c.592+277TTTG[9]	GIPC3	Microsatellite (intron variant)	not provided	GBenign

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