"GeneDx"[submitter] AND "GIPC3"[gene] - ClinVar

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Items: 75

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 505606	NM_133261.3(GIPC3):c.4G>A (p.Glu2Lys)	GIPC3 (E2K)	Single nucleotide variant (missense variant)	GIPC3-related condition +2 more	GConflicting classifications of pathogenicity
Select item 517411	NM_133261.3(GIPC3):c.20G>A (p.Arg7Gln)	GIPC3 (R7Q)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
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)	not specified +2 more	GBenign/Likely benign
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 1704974	NM_133261.3(GIPC3):c.172G>A (p.Val58Ile)	GIPC3 (V58I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 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 1331262	NM_133261.3(GIPC3):c.226-12T>C	GIPC3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
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 46571	NM_133261.3(GIPC3):c.276G>A (p.Leu92=)	GIPC3	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
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 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 1306815	NM_133261.3(GIPC3):c.494T>C (p.Ile165Thr)	GIPC3 (I165T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 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)	GIPC3-related condition +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
Select item 1253061	NM_133261.3(GIPC3):c.592+277TTTG[8]	GIPC3	Microsatellite (intron variant)	not provided	GBenign
Select item 1226625	NM_133261.3(GIPC3):c.592+277TTTG[7]	GIPC3	Microsatellite (intron variant)	not provided	GBenign
Select item 1218531	NM_133261.3(GIPC3):c.592+279T>C	GIPC3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1190626	NM_133261.3(GIPC3):c.593-167C>T	GIPC3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1196221	NM_133261.3(GIPC3):c.593-151G>A	GIPC3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1265645	NM_133261.3(GIPC3):c.593-102G>A	GIPC3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 682948	NM_133261.3(GIPC3):c.593-28T>C	GIPC3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 46572	NM_133261.3(GIPC3):c.593-6C>T	GIPC3	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1344946	NM_133261.3(GIPC3):c.613C>T (p.Arg205Trp)	GIPC3 (R205W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 667115	NM_133261.3(GIPC3):c.639G>A (p.Ala213=)	GIPC3	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 1691609	NM_133261.3(GIPC3):c.667C>T (p.Arg223Trp)	GIPC3 (R223W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1314224	NM_133261.3(GIPC3):c.679G>T (p.Gly227Trp)	GIPC3 (G227W)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1277840	NM_133261.3(GIPC3):c.705+116T>C	GIPC3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1257961	NM_133261.3(GIPC3):c.706-61G>A	GIPC3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 286667	NM_133261.3(GIPC3):c.706-12G>A	GIPC3	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 773897	NM_133261.3(GIPC3):c.706-3dup	GIPC3	Duplication (intron variant)	Autosomal recessive nonsyndromic hearing loss 15 +2 more	GBenign/Likely benign
Select item 2430704	NM_133261.3(GIPC3):c.712G>C (p.Glu238Gln)	GIPC3 (E238Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1699593	NM_133261.3(GIPC3):c.723G>C (p.Glu241Asp)	GIPC3 (E241D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 432285	NM_133261.3(GIPC3):c.733C>G (p.Arg245Gly)	GIPC3 (R245G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1306338	NM_133261.3(GIPC3):c.764T>G (p.Met255Arg)	GIPC3 (M255R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1691164	NM_133261.3(GIPC3):c.772C>T (p.Arg258Trp)	GIPC3 (R258W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1283804	NM_133261.3(GIPC3):c.787+31G>T	GIPC3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1189600	NM_133261.3(GIPC3):c.787+43G>A	GIPC3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1187690	NM_133261.3(GIPC3):c.788-45C>T	GIPC3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1205757	NM_133261.3(GIPC3):c.788-43C>T	GIPC3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 513298	NM_133261.3(GIPC3):c.788-4G>A	GIPC3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 509518	NM_133261.3(GIPC3):c.807G>A (p.Thr269=)	GIPC3	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 2502750	NM_133261.3(GIPC3):c.821C>G (p.Ala274Gly)	GIPC3 (A274G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 517347	NM_133261.3(GIPC3):c.821C>T (p.Ala274Val)	GIPC3 (A274V)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1200991	NM_133261.3(GIPC3):c.842G>A (p.Arg281His)	GIPC3 (R281H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 163510	NM_133261.3(GIPC3):c.856G>A (p.Val286Ile)	GIPC3 (V286I)	Single nucleotide variant (missense variant)	GIPC3-related condition +2 more	GConflicting classifications of pathogenicity
Select item 227384	NM_133261.3(GIPC3):c.871G>A (p.Ala291Thr)	GIPC3 (A291T)	Single nucleotide variant (missense variant)	not specified +2 more	GLikely benign
Select item 2501920	NM_133261.3(GIPC3):c.899T>C (p.Val300Ala)	GIPC3 (V300A)	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 281640	NM_133261.3(GIPC3):c.906C>T (p.Ala302=)	GIPC3	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1435297	NM_133261.3(GIPC3):c.908C>T (p.Ala303Val)	GIPC3 (A303V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1331104	NM_133261.3(GIPC3):c.913G>A (p.Gly305Ser)	GIPC3 (G305S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2359495	NM_133261.3(GIPC3):c.916G>A (p.Glu306Lys)	GIPC3 (E306K +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1321694	NM_133261.3(GIPC3):c.*15del	GIPC3	Deletion (3 prime UTR variant)	not provided	GLikely benign
Select item 1209019	NM_133261.3(GIPC3):c.*83G>A	GIPC3	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1233768	NM_133261.3(GIPC3):c.*146A>G	GIPC3	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign

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Items: 75