7476[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148942	GRCh38/hg38 3p26.3-24.1(chr3:32241-30064208)x3	ANKRD28, ARL8B +799 more	Copy number gain	See cases	GPathogenic
Select item 148876	GRCh38/hg38 3p26.3-24.3(chr3:32241-20334387)x3	LOC129936198, LOC129936199 +647 more	Copy number gain	See cases	GPathogenic
Select item 57397	GRCh38/hg38 3p26.3-22.2(chr3:52266-37148076)x3	LOC129936421, LOC129936422 +962 more	Copy number gain	See cases	GPathogenic
Select item 153415	GRCh38/hg38 3p26.3-22.1(chr3:53308-41381521)x3	ACAA1, ACVR2B +1111 more	Copy number gain	See cases	GPathogenic
Select item 57977	GRCh38/hg38 3p26.3-24.3(chr3:63843-19510600)x3	LOC110120630, LOC111429626 +608 more	Copy number gain	See cases	GPathogenic
Select item 155699	GRCh38/hg38 3p26.1-25.1(chr3:7356110-14360442)x3	ARPC4, ARPC4-TTLL3 +307 more	Copy number gain	See cases	GPathogenic
Select item 57978	GRCh38/hg38 3p25.3-22.2(chr3:11463328-38919543)x3	LOC132088948, LOC132088950 +730 more	Copy number gain	See cases	GPathogenic
Select item 148551	GRCh38/hg38 3p25.1(chr3:13325295-13882924)x4	FBLN2, HDAC11 +23 more	Copy number gain	See cases	GUncertain significance
Select item 1703229	Single allele	HDAC11, LOC126806611 +244 more	Deletion	3p- syndrome	GPathogenic
Select item 1212528	NM_004625.4(WNT7A):c.*132C>T	WNT7A	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 2537484	NM_004625.4(WNT7A):c.1036T>C (p.Tyr346His)	WNT7A (Y346H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1570439	NM_004625.4(WNT7A):c.1029G>A (p.Thr343=)	WNT7A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 497790	NM_004625.4(WNT7A):c.1028C>T (p.Thr343Met)	WNT7A (T343M)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2615158	NM_004625.4(WNT7A):c.981G>C (p.Lys327Asn)	WNT7A (K327N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3333231	NM_004625.4(WNT7A):c.956C>T (p.Ala319Val)	WNT7A (A319V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 749690	NM_004625.4(WNT7A):c.942C>T (p.Asn314=)	WNT7A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1922392	NM_004625.4(WNT7A):c.937T>C (p.Tyr313His)	WNT7A (Y313H)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2348102	NM_004625.4(WNT7A):c.919A>T (p.Met307Leu)	WNT7A (M307L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3051335	NM_004625.4(WNT7A):c.891G>A (p.Thr297=)	WNT7A	Single nucleotide variant (synonymous variant)	WNT7A-related disorder	GLikely benign
Select item 3333230	NM_004625.4(WNT7A):c.889A>G (p.Thr297Ala)	WNT7A (T297A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2464898	NM_004625.4(WNT7A):c.884A>G (p.Asn295Ser)	WNT7A (N295S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 8060	NM_004625.4(WNT7A):c.874C>T (p.Arg292Cys)	WNT7A (R292C)	Single nucleotide variant (missense variant)	Schinzel phocomelia syndrome	GLikely pathogenic
Select item 197238	NM_004625.4(WNT7A):c.861G>A (p.Val287=)	WNT7A	Single nucleotide variant (synonymous variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 3190748	NM_004625.4(WNT7A):c.827A>T (p.Asn276Ile)	WNT7A (N276I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2492778	NM_004625.4(WNT7A):c.823C>T (p.Pro275Ser)	WNT7A (P275S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2226648	NM_004625.4(WNT7A):c.821C>G (p.Ser274Trp)	WNT7A (S274W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2288008	NM_004625.4(WNT7A):c.811A>G (p.Ile271Val)	WNT7A (I271V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1635400	NM_004625.4(WNT7A):c.777G>A (p.Ser259=)	WNT7A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1634278	NM_004625.4(WNT7A):c.747C>A (p.Pro249=)	WNT7A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 591091	NM_004625.4(WNT7A):c.733C>T (p.Arg245Cys)	WNT7A (R245C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 787253	NM_004625.4(WNT7A):c.681G>A (p.Val227=)	WNT7A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 591541	NM_004625.4(WNT7A):c.665G>A (p.Arg222Gln)	WNT7A (R222Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 40130	NM_004625.4(WNT7A):c.664C>T (p.Arg222Trp)	WNT7A (R222W)	Single nucleotide variant (missense variant)	Schinzel phocomelia syndrome	GPathogenic
Select item 743183	NM_004625.4(WNT7A):c.624G>A (p.Ser208=)	WNT7A	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 35537	NM_004625.4(WNT7A):c.610G>A (p.Gly204Ser)	WNT7A (G204S)	Single nucleotide variant (missense variant)	Schinzel phocomelia syndrome +1 more	GPathogenic/Likely pathogenic
Select item 2535771	NM_004625.4(WNT7A):c.572T>C (p.Ile191Thr)	WNT7A (I191T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 792987	NM_004625.4(WNT7A):c.571-9C>G	WNT7A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3020334	NM_004625.4(WNT7A):c.571-15C>T	WNT7A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222875	NM_004625.4(WNT7A):c.571-37T>C	WNT7A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283003	NM_004625.4(WNT7A):c.570+223A>G	LOC126806608, WNT7A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276828	NM_004625.4(WNT7A):c.570+212G>C	LOC126806608, WNT7A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1198399	NM_004625.4(WNT7A):c.570+79G>A	LOC126806608, WNT7A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2304515	NM_004625.4(WNT7A):c.556G>A (p.Glu186Lys)	LOC126806608, WNT7A (E186K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 500584	NM_004625.4(WNT7A):c.555C>T (p.Asn185=)	LOC126806608, WNT7A	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 2672931	NM_004625.4(WNT7A):c.531G>A (p.Arg177=)	LOC126806608, WNT7A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 189350	NM_004625.4(WNT7A):c.487G>A (p.Ala163Thr)	LOC126806608, WNT7A (A163T)	Single nucleotide variant (missense variant)	Bladder exstrophy-epispadias-cloacal extrophy complex	GUncertain significance
Select item 2713473	NM_004625.4(WNT7A):c.474C>T (p.Tyr158=)	LOC126806608, WNT7A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1050186	NM_004625.4(WNT7A):c.470G>A (p.Arg157His)	LOC126806608, WNT7A (R157H)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2301669	NM_004625.4(WNT7A):c.469C>T (p.Arg157Cys)	LOC126806608, WNT7A (R157C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1291668	NM_004625.4(WNT7A):c.459T>C (p.Ser153=)	LOC126806608, WNT7A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3051389	NM_004625.4(WNT7A):c.432C>T (p.Asp144=)	LOC126806608, WNT7A	Single nucleotide variant (synonymous variant)	WNT7A-related disorder	GLikely benign
Select item 3045883	NM_004625.4(WNT7A):c.408G>A (p.Glu136=)	LOC126806608, WNT7A	Single nucleotide variant (synonymous variant)	WNT7A-related disorder	GLikely benign
Select item 288358	NM_004625.4(WNT7A):c.399C>T (p.Cys133=)	LOC126806608, WNT7A	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2293402	NM_004625.4(WNT7A):c.390C>A (p.Asp130Glu)	LOC126806608, WNT7A (D130E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 732506	NM_004625.4(WNT7A):c.387C>T (p.Ser129=)	LOC126806608, WNT7A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3190747	NM_004625.4(WNT7A):c.371C>T (p.Thr124Ile)	LOC126806608, WNT7A (T124I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2263054	NM_004625.4(WNT7A):c.331A>G (p.Ile111Val)	LOC126806608, WNT7A (I111V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 8061	NM_004625.4(WNT7A):c.325G>A (p.Ala109Thr)	LOC126806608, WNT7A (A109T)	Single nucleotide variant (missense variant)	Fuhrmann syndrome	GPathogenic
Select item 1278485	NM_004625.4(WNT7A):c.315G>A (p.Ala105=)	LOC126806608, WNT7A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 253008	NM_004625.4(WNT7A):c.304C>T (p.Arg102Trp)	LOC126806608, WNT7A (R102W)	Single nucleotide variant (missense variant)	Schinzel phocomelia syndrome	GPathogenic
Select item 1241552	NM_004625.4(WNT7A):c.298+203_298+210dup	WNT7A	Duplication (intron variant)	not provided	GBenign
Select item 1207079	NM_004625.4(WNT7A):c.298+40C>T	WNT7A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1286438	NM_004625.4(WNT7A):c.298+37C>A	WNT7A	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1212091	NM_004625.4(WNT7A):c.298+24C>T	WNT7A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 285917	NM_004625.4(WNT7A):c.269G>A (p.Arg90His)	WNT7A (R90H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 748820	NM_004625.4(WNT7A):c.259C>T (p.Leu87=)	WNT7A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 221926	NM_004625.4(WNT7A):c.232C>T (p.Arg78Cys)	WNT7A (R78C)	Single nucleotide variant (missense variant)	Anophthalmia-microphthalmia syndrome	GLikely benign
Select item 40302	NM_004625.4(WNT7A):c.214G>A (p.Glu72Lys)	WNT7A (E72K)	Single nucleotide variant (missense variant)	Schinzel phocomelia syndrome	GPathogenic
Select item 497708	NM_004625.4(WNT7A):c.213C>T (p.Asp71=)	WNT7A	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 726320	NM_004625.4(WNT7A):c.171C>T (p.Asp57=)	WNT7A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3190746	NM_004625.4(WNT7A):c.149C>T (p.Ala50Val)	WNT7A (A50V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2236059	NM_004625.4(WNT7A):c.146G>A (p.Arg49Gln)	WNT7A (R49Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1921035	NM_004625.4(WNT7A):c.145C>T (p.Arg49Trp)	WNT7A (R49W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 725462	NM_004625.4(WNT7A):c.145C>A (p.Arg49=)	WNT7A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3333229	NM_004625.4(WNT7A):c.100G>A (p.Ala34Thr)	WNT7A (A34T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2084552	NM_004625.4(WNT7A):c.99C>T (p.Gly33=)	WNT7A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 719319	NM_004625.4(WNT7A):c.81C>T (p.Ser27=)	WNT7A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 281770	NM_004625.4(WNT7A):c.75C>T (p.Gly25=)	WNT7A	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 291033	NM_004625.4(WNT7A):c.72-8C>T	WNT7A	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 785034	NM_004625.4(WNT7A):c.72-10C>T	WNT7A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1240672	NM_004625.4(WNT7A):c.72-124C>A	WNT7A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1254732	NM_004625.4(WNT7A):c.72-302G>A	WNT7A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1216573	NM_004625.4(WNT7A):c.71+230del	WNT7A	Deletion (intron variant)	not provided	GLikely benign
Select item 1218175	NM_004625.4(WNT7A):c.71+211G>C	WNT7A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1215877	NM_004625.4(WNT7A):c.71+100A>C	WNT7A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 787254	NM_004625.4(WNT7A):c.60C>T (p.Tyr20=)	WNT7A	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2454955	NM_004625.4(WNT7A):c.54G>A (p.Met18Ile)	WNT7A (M18I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2066787	NM_004625.4(WNT7A):c.25C>T (p.Leu9=)	WNT7A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2334003	NM_004625.4(WNT7A):c.8G>A (p.Arg3Gln)	WNT7A (R3Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1203987	NM_004625.4(WNT7A):c.-123G>T	WNT7A	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1271514	NM_004625.4(WNT7A):c.-164C>A	WNT7A	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1204202	NM_004625.4(WNT7A):c.-168T>C	WNT7A	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1215167	NM_004625.4(WNT7A):c.-236G>A	WNT7A	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1200608	NC_000003.12:g.13880086G>C	WNT7A	Single nucleotide variant	not provided	GLikely benign
Select item 1280288	NC_000003.12:g.13880162G>T	WNT7A	Single nucleotide variant	not provided	GBenign
Select item 1190241	NC_000003.12:g.13880229C>G	WNT7A	Single nucleotide variant	not provided	GLikely benign
Select item 1328767	NC_000003.12:g.13880246G>T	WNT7A	Single nucleotide variant	not provided	GLikely benign
Select item 1207192	NC_000003.12:g.13880272C>T	WNT7A	Single nucleotide variant	not provided	GLikely benign
Select item 1231543	NC_000003.12:g.13880326C>T	WNT7A	Single nucleotide variant	not provided	GBenign
Select item 1706857	NC_000003.12:g.13880327C>T	WNT7A	Single nucleotide variant	not provided	GLikely benign

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