10755[geneid] - ClinVar

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Items: 58

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 59112	GRCh38/hg38 19p13.2-13.12(chr19:12132052-14751798)x3	LOC129391074, LOC130063625 +351 more	Copy number gain	See cases	GPathogenic
Select item 146686	GRCh38/hg38 19p13.2-13.12(chr19:12580427-14742673)x1	ADGRE2, ADGRE3 +318 more	Copy number loss	See cases	GPathogenic
Select item 147284	GRCh38/hg38 19p13.13-13.12(chr19:13533925-15371089)x1	ADGRE2, ADGRE3 +180 more	Copy number loss	See cases	GPathogenic
Select item 59114	GRCh38/hg38 19p13.12-q11(chr19:13974677-27839676)x3	ABHD8, ADGRE2 +695 more	Copy number gain	See cases	GPathogenic
Select item 144765	GRCh38/hg38 19p13.12-13.11(chr19:14154962-16914313)x1	ADGRE2, ADGRE3 +237 more	Copy number loss	See cases	GPathogenic
Select item 147745	GRCh38/hg38 19p13.12(chr19:14406909-15410770)x1	LOC130063788, LOC130063789 +77 more	Copy number loss	See cases	GUncertain significance
Select item 144311	GRCh38/hg38 19p13.12(chr19:14477761-15133653)x3	ADGRE2, ADGRE3 +41 more	Copy number gain	See cases	GUncertain significance
Select item 2338470	NM_005716.4(GIPC1):c.998A>G (p.Tyr333Cys)	GIPC1 (Y236C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543837	NM_005716.4(GIPC1):c.991G>A (p.Gly331Ser)	GIPC1 (G234S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3520213	NM_005716.4(GIPC1):c.970G>A (p.Ala324Thr)	GIPC1 (A227T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217397	NM_005716.4(GIPC1):c.842C>T (p.Thr281Met)	GIPC1 (T281M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3350258	NM_005716.4(GIPC1):c.769-5C>A	GIPC1	Single nucleotide variant (intron variant)	GIPC1-related condition	GLikely benign
Select item 2553171	NM_005716.4(GIPC1):c.743G>A (p.Arg248Gln)	GIPC1 (R248Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099893	NM_005716.4(GIPC1):c.742C>T (p.Arg248Trp)	GIPC1 (R151W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099892	NM_005716.4(GIPC1):c.733C>T (p.Leu245Phe)	GIPC1 (L148F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468875	NM_005716.4(GIPC1):c.719G>A (p.Arg240Gln)	GIPC1 (R240Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400120	NM_005716.4(GIPC1):c.712A>C (p.Thr238Pro)	GIPC1 (T141P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530002	NM_005716.4(GIPC1):c.691G>A (p.Gly231Ser)	GIPC1 (G134S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 782966	NM_005716.4(GIPC1):c.677C>T (p.Ala226Val)	GIPC1 (A129V +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 2524108	NM_005716.4(GIPC1):c.676G>A (p.Ala226Thr)	GIPC1 (A129T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099891	NM_005716.4(GIPC1):c.665G>A (p.Ser222Asn)	GIPC1 (S125N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281415	NM_005716.4(GIPC1):c.658A>G (p.Met220Val)	GIPC1 (M123V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520928	NM_005716.4(GIPC1):c.644G>T (p.Arg215Leu)	GIPC1 (R118L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281413	NM_005716.4(GIPC1):c.514A>C (p.Ile172Leu)	GIPC1 (I75L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3520216	NM_005716.4(GIPC1):c.502C>T (p.His168Tyr)	GIPC1 (H168Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099890	NM_005716.4(GIPC1):c.502C>G (p.His168Asp)	GIPC1 (H71D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 808488	NM_005716.4(GIPC1):c.476G>A (p.Arg159His)	GIPC1 (R159H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3099889	NM_005716.4(GIPC1):c.449A>G (p.Asn150Ser)	GIPC1 (N150S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3387912	NM_005716.4(GIPC1):c.438C>T (p.Thr146=)	GIPC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2229054	NM_005716.4(GIPC1):c.421G>A (p.Asp141Asn)	GIPC1 (D141N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099888	NM_005716.4(GIPC1):c.344G>A (p.Gly115Asp)	GIPC1 (G115D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099887	NM_005716.4(GIPC1):c.329A>G (p.Asp110Gly)	GIPC1 (D110G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595356	NM_005716.4(GIPC1):c.324C>A (p.Asp108Glu)	GIPC1 (D108E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238217	NM_005716.4(GIPC1):c.318A>C (p.Lys106Asn)	GIPC1 (K106N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099886	NM_005716.4(GIPC1):c.280A>G (p.Thr94Ala)	GIPC1 (T94A)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2236984	NM_005716.4(GIPC1):c.262G>A (p.Glu88Lys)	GIPC1 (E88K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2612800	NM_005716.4(GIPC1):c.232A>G (p.Asn78Asp)	GIPC1 (N78D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3520217	NM_005716.4(GIPC1):c.163C>T (p.Arg55Trp)	GIPC1 (R55W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2600079	NM_005716.4(GIPC1):c.135G>A (p.Met45Ile)	GIPC1 (M45I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2362898	NM_005716.4(GIPC1):c.119C>T (p.Ser40Leu)	GIPC1 (S40L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3099884	NM_005716.4(GIPC1):c.109G>A (p.Gly37Arg)	GIPC1 (G37R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3281414	NM_005716.4(GIPC1):c.71G>C (p.Arg24Pro)	GIPC1 (R24P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2649424	NM_005716.4(GIPC1):c.69C>T (p.Gly23=)	GIPC1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3099885	NM_005716.4(GIPC1):c.22C>T (p.Arg8Trp)	GIPC1 (R8W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3351913	NM_005716.4(GIPC1):c.20G>T (p.Arg7Leu)	GIPC1 (R7L)	Single nucleotide variant (missense variant +1 more)	GIPC1-related condition	GUncertain significance
Select item 2382138	NM_005716.4(GIPC1):c.20G>A (p.Arg7Gln)	GIPC1 (R7Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3392185	GRCh37/hg19 19p13.12(chr19:14508139-15600034)x3	ADGRE2, ADGRE3 +29 more	Copy number gain	not provided	GUncertain significance
Select item 3062393	GRCh37/hg19 19p13.13-13.11(chr19:13970692-18139376)x3	CYP4F8, DCAF15 +109 more	Copy number gain	not specified	GUncertain significance
Select item 1526656	GRCh37/hg19 19p13.12-13.11(chr19:14124666-16431349)	ADGRE2, ADGRE3 +55 more	Copy number loss	not specified	GPathogenic
Select item 980194	GRCh37/hg19 19p13.12-12(chr19:14286624-20956753)x3	BST2, NWD1 +158 more	Copy number gain	not provided	GPathogenic
Select item 816068	GRCh37/hg19 19p13.12(chr19:14368330-15712368)x1	ADGRE2, ADGRE3 +30 more	Copy number loss	not provided	GPathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443137	GRCh37/hg19 19p13.2-13.12(chr19:12574343-14726197)x1	ADGRE5, ADGRL1 +64 more	Copy number loss	See cases	GPathogenic
Select item 442731	GRCh37/hg19 19p13.2-13.12(chr19:13592592-14717528)x1	ADGRE5, ADGRL1 +30 more	Copy number loss	See cases	GLikely pathogenic
Select item 395688	GRCh37/hg19 19p13.2-13.12(chr19:9678768-14853426)	ADGRL1, ANGPTL6 +153 more	Copy number gain	See cases	GPathogenic
Select item 972742	NM_005716.4:c.-211GGC[(73_?)]	GIPC1	Microsatellite	Oculopharyngodistal myopathy 2	GPathogenic

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Items: 58