ClinVar for Gene (Select 2253) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3368941	NM_033163.5(FGF8):c.157-11A>G	FGF8	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3367957	NM_033163.5(FGF8):c.271G>A (p.Gly91Arg)	FGF8 (G51R +3 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 3363629	NM_033163.5(FGF8):c.446G>A (p.Ser149Asn)	FGF8 (S109N +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359353	NM_033163.5(FGF8):c.204G>C (p.Gln68His)	FGF8 (Q28H +3 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 3342255	Single allele	ACTR1A, ARL3 +35 more	Deletion	See cases	GPathogenic
Select item 3278656	NM_033163.5(FGF8):c.439G>A (p.Ala147Thr)	FGF8 (A136T +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3278655	NM_033163.5(FGF8):c.122G>A (p.Arg41Gln)	FGF8 (R41Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3278654	NM_033163.5(FGF8):c.172T>C (p.Ser58Pro)	FGF8 (S58P +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3250370	NC_000010.10:g.103001852_103543913dup	BTRC, DPCD +4 more	Duplication	Hypoplastic femurs and pelvis	GPathogenic
Select item 3250369	NC_000010.10:g.103012761_103546704dup	BTRC, DPCD +5 more	Duplication	Hypoplastic femurs and pelvis	GPathogenic
Select item 3238945	NM_033163.5(FGF8):c.157-14T>C	FGF8	Single nucleotide variant (intron variant)	Hypogonadotropic hypogonadism 6 with or without anosmia	GUncertain significance
Select item 3238944	NM_033163.5(FGF8):c.195G>C (p.Val65=)	FGF8	Single nucleotide variant (5 prime UTR variant +1 more)	Hypogonadotropic hypogonadism 6 with or without anosmia	GUncertain significance
Select item 3094757	NM_033163.5(FGF8):c.502A>T (p.Thr168Ser)	FGF8 (T128S +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3094756	NM_033163.5(FGF8):c.386G>A (p.Arg129Gln)	FGF8 (R129Q +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3063164	GRCh37/hg19 10q23.33-26.3(chr10:95078198-135427143)x3	ABCC2, ABLIM1 +293 more	Copy number gain	not specified	GPathogenic
Select item 3063157	GRCh37/hg19 10q24.32(chr10:103197122-103601973)x3	BTRC, DPCD +6 more	Copy number gain	not specified	GUncertain significance
Select item 3044164	NM_033163.5(FGF8):c.-5G>A	FGF8	Single nucleotide variant (5 prime UTR variant +1 more)	FGF8-related disorder	GLikely benign
Select item 3040931	NM_033163.5(FGF8):c.-8C>G	FGF8	Single nucleotide variant (5 prime UTR variant +1 more)	FGF8-related disorder	GLikely benign
Select item 3033189	NM_033163.5(FGF8):c.18C>A (p.Ser6=)	FGF8	Single nucleotide variant (synonymous variant +1 more)	FGF8-related disorder	GLikely benign
Select item 3022931	NM_033163.5(FGF8):c.33-3C>T	FGF8	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3013446	NM_033163.5(FGF8):c.423G>A (p.Lys141=)	FGF8	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2982178	NM_033163.5(FGF8):c.33-5C>T	FGF8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2976759	NM_033163.5(FGF8):c.32+9C>A	FGF8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2964803	NM_033163.5(FGF8):c.337+16G>A	FGF8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2959534	NM_033163.5(FGF8):c.698G>A (p.Arg233His)	FGF8 (R193H +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2874490	NM_033163.5(FGF8):c.69+11G>A	FGF8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2874053	NM_033163.5(FGF8):c.386G>C (p.Arg129Pro)	FGF8 (R129P +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2787604	NM_033163.5(FGF8):c.711G>A (p.Arg237=)	FGF8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2690947	NM_033163.5(FGF8):c.290T>C (p.Leu97Pro)	FGF8 (L57P +3 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Male infertility with azoospermia or oligozoospermia due to single gene mutation	GLikely pathogenic
Select item 2672413	NM_033163.5(FGF8):c.84G>T (p.Arg28Ser)	FGF8 (R28S)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2663417	NM_033163.5(FGF8):c.59T>A (p.Leu20His)	FGF8 (L20H)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2640773	NM_033163.5(FGF8):c.79G>C (p.Gly27Arg)	FGF8 (G27R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2640772	NM_033163.5(FGF8):c.655C>T (p.Arg219Cys)	FGF8 (R115C +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2636585	NM_033163.5(FGF8):c.550C>T (p.Arg184Cys)	FGF8 (R144C +4 more)	Single nucleotide variant (missense variant)	FGF8-related disorder	GUncertain significance
Select item 2582180	NM_033163.5(FGF8):c.318del (p.Glu107fs)	FGF8 (E107fs +4 more)	Deletion (frameshift variant)	not provided	GPathogenic/Likely pathogenic
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	AGAP5, CRTAC1 +682 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	ABRAXAS2, CHCHD1 +673 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2573738	NM_033163.5(FGF8):c.261C>A (p.Ser87Arg)	FGF8 (S47R +3 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2571824	NM_033163.5(FGF8):c.523T>C (p.Tyr175His)	FGF8 (Y135H +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2535813	NM_033163.5(FGF8):c.20C>G (p.Ala7Gly)	FGF8 (A7G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2430408	NM_033163.5(FGF8):c.300G>C (p.Lys100Asn)	FGF8 (K100N +3 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2424090	NC_000010.10:g.(?_99344461)_(105992004_?)dup	CPN1, CRTAC1 +95 more	Duplication	not provided	GUncertain significance
Select item 2423956	NC_000010.10:g.(?_102747968)_(103535657_?)dup	BTRC, DPCD +11 more	Duplication	not provided	GUncertain significance
Select item 2309887	NM_033163.5(FGF8):c.661G>A (p.Glu221Lys)	FGF8 (E192K +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2282623	NM_033163.5(FGF8):c.697C>T (p.Arg233Cys)	FGF8 (R129C +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2117899	NM_033163.5(FGF8):c.232C>T (p.Arg78Cys)	FGF8 (R38C +3 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1964815	NM_033163.5(FGF8):c.65C>G (p.Ala22Gly)	FGF8 (A22G)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1954858	NM_033163.5(FGF8):c.393C>T (p.Ala131=)	FGF8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1932646	NM_033163.5(FGF8):c.156+3G>A	FGF8	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1913175	NM_033163.5(FGF8):c.98G>T (p.Gly33Val)	FGF8 (G33V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1906851	NM_033163.5(FGF8):c.402C>T (p.Gly134=)	FGF8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1722901	NM_033163.5(FGF8):c.77C>G (p.Pro26Arg)	FGF8 (P26R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1708951	NM_033163.5(FGF8):c.278A>G (p.His93Arg)	FGF8 (H53R +3 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Hypogonadotropic hypogonadism 6 with or without anosmia	GUncertain significance
Select item 1693047	NM_033163.5(FGF8):c.437T>G (p.Ile146Ser)	FGF8 (I106S +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1693028	NM_033163.5(FGF8):c.469G>A (p.Val157Ile)	FGF8 (V117I +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1667638	NM_033163.5(FGF8):c.70-10G>A	FGF8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1649848	NM_033163.5(FGF8):c.93G>A (p.Ala31=)	FGF8	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1639031	NM_033163.5(FGF8):c.32+12G>T	FGF8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1568244	NM_033163.5(FGF8):c.126T>C (p.Ala42=)	FGF8	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 1567219	NM_033163.5(FGF8):c.216G>A (p.Thr72=)	FGF8	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1507714	NM_033163.5(FGF8):c.137C>T (p.Pro46Leu)	FGF8 (P46L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1412304	NC_000010.10:g.(?_102987027)_(103530396_?)dup	BTRC, DPCD +4 more	Duplication	not provided	GUncertain significance
Select item 1402616	NM_033163.5(FGF8):c.92C>A (p.Ala31Glu)	FGF8 (A31E)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1307233	NM_033163.5(FGF8):c.281T>C (p.Val94Ala)	FGF8 (V54A +3 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1306672	NM_033163.5(FGF8):c.508C>T (p.Leu170=)	FGF8	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1306228	NM_033163.5(FGF8):c.559C>T (p.Arg187Trp)	FGF8 (R147W +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1271093	NM_033163.5(FGF8):c.444+19G>A	FGF8	Single nucleotide variant (intron variant)	Hypogonadotropic hypogonadism 6 with or without anosmia +1 more	GBenign
Select item 1269222	NM_033163.5(FGF8):c.176_187del	FGF8	Deletion (3 prime UTR variant)	not provided	GBenign
Select item 1263103	NM_033163.5(FGF8):c.*187del	FGF8	Deletion (3 prime UTR variant)	not provided	GBenign
Select item 1255233	NM_033163.5(FGF8):c.-35C>T	FGF8, LOC109136576	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1251743	NM_033163.5(FGF8):c.*187dup	FGF8	Duplication (3 prime UTR variant)	not provided	GBenign
Select item 1219940	NM_033163.5(FGF8):c.*124G>C	FGF8	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1196826	NM_033163.5(FGF8):c.444+138C>T	FGF8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1175443	NC_000010.11:g.101770052A>T	FGF8	Single nucleotide variant	not provided	GLikely benign
Select item 1031556	NM_033163.5(FGF8):c.335_337+2del	FGF8	Deletion (splice donor variant)	Hypogonadotropic hypogonadism 6 with or without anosmia	GUncertain significance
Select item 983051	NM_033163.5(FGF8):c.157-6C>G	FGF8	Single nucleotide variant (intron variant)	Hypogonadotropic hypogonadism 6 with or without anosmia	GUncertain significance
Select item 813643	NM_033163.5(FGF8):c.526G>A (p.Glu176Lys)	FGF8 (E136K +4 more)	Single nucleotide variant (missense variant)	Microcephaly	GUncertain significance
Select item 802628	NM_033163.5(FGF8):c.506C>T (p.Ala169Val)	FGF8 (A65V +4 more)	Single nucleotide variant (missense variant)	Holoprosencephaly 1	GLikely benign
Select item 740839	NM_033163.5(FGF8):c.72A>G (p.Glu24=)	FGF8	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 731439	NM_033163.5(FGF8):c.357G>A (p.Thr119=)	FGF8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 705498	NM_033163.5(FGF8):c.24G>T (p.Leu8=)	FGF8	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 704217	NM_033163.5(FGF8):c.156+6T>C	FGF8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 695218	NM_033163.5(FGF8):c.582G>A (p.Thr194=)	FGF8	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 695212	NM_033163.5(FGF8):c.507G>A (p.Ala169=)	FGF8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 625658	GRCh37/hg19 10q24.31-24.32(chr10:102822575-103558868)	BTRC, DPCD +9 more	Copy number gain	Split hand-foot malformation 3	GPathogenic
Select item 599013	NM_033163.5(FGF8):c.379C>T (p.Arg127Ter)	FGF8 (R127* +4 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 563802	GRCh37/hg19 10q23.33-26.3(chr10:94346520-135427143)x3	ABCC2, ABLIM1 +298 more	Copy number gain	not provided	GPathogenic
Select item 545517	NM_033163.5(FGF8):c.444+1G>A	FGF8	Single nucleotide variant (splice donor variant)	Holoprosencephaly sequence	GLikely pathogenic
Select item 545463	NM_033163.5(FGF8):c.86_103dup (p.Gly29_Arg34dup)	FGF8	Duplication (inframe_insertion +1 more)	Holoprosencephaly sequence +2 more	GConflicting classifications of pathogenicity
Select item 545461	NM_033163.5(FGF8):c.130C>T (p.Arg44Trp)	FGF8 (R44W)	Single nucleotide variant (missense variant +1 more)	Peters plus syndrome +2 more	GConflicting classifications of pathogenicity
Select item 545460	NM_033163.5(FGF8):c.497A>G (p.Asn166Ser)	FGF8 (N155S +4 more)	Single nucleotide variant (missense variant)	Holoprosencephaly sequence	GUncertain significance
Select item 545459	NM_033163.5(FGF8):c.157G>C (p.Val53Leu)	FGF8 (V53L +1 more)	Single nucleotide variant (missense variant +1 more)	Holoprosencephaly sequence	GLikely pathogenic
Select item 545458	NM_033163.5(FGF8):c.398C>T (p.Thr133Met)	FGF8 (T122M +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 545457	NM_033163.5(FGF8):c.559_573del (p.Arg187_Gly191del)	FGF8	Deletion (inframe_deletion)	not provided +1 more	GPathogenic
Select item 545456	NM_033163.5(FGF8):c.469G>T (p.Val157Phe)	FGF8 (V146F +4 more)	Single nucleotide variant (missense variant)	Holoprosencephaly sequence	GLikely pathogenic
Select item 545413	NM_033163.5(FGF8):c.157-1G>A	FGF8	Single nucleotide variant (intron variant +1 more)	Holoprosencephaly sequence	GLikely pathogenic
Select item 523165	GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1	COX15, CPEB3 +569 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 516904	NM_033163.5(FGF8):c.642C>T (p.Thr214=)	FGF8	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 443323	GRCh37/hg19 10q23.32-26.3(chr10:93283493-135427143)x3	ABCC2, ABLIM1 +305 more	Copy number gain	See cases	GPathogenic
Select item 441987	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	INA, INPP5A +721 more	Copy number gain	See cases	GPathogenic

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