5213[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC126861648, LOC126861649 +4836 more	Copy number gain	See cases	GPathogenic
Select item 1211158	NM_001267594.1(SENP1):c.-132G>A	PFKM	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1239017	NM_001267594.1(SENP1):c.-165T>A	PFKM	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 672142	NM_001166686.2(PFKM):c.-9-284C>G	PFKM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1186998	NM_001166686.2(PFKM):c.-9-281A>T	PFKM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1330955	NM_001354741.2(PFKM):c.-81+1955A>G	PFKM (M1V)	Single nucleotide variant (missense variant +3 more)	Glycogen storage disease, type VII	GUncertain significance
Select item 441153	NM_001166686.2(PFKM):c.5A>T (p.His2Leu)	PFKM (H2L)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GBenign
Select item 2428748	NM_001354741.2(PFKM):c.-81+1966C>T	PFKM	Single nucleotide variant (synonymous variant +2 more)	Glycogen storage disease, type VII	GLikely benign
Select item 1209596	NM_001354735.1(PFKM):c.53G>T (p.Arg18Leu)	PFKM (R18L)	Single nucleotide variant (missense variant +2 more)	Glycogen storage disease, type VII	GUncertain significance
Select item 1306770	NM_001354741.2(PFKM):c.-81+2015G>A	PFKM (V21I)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 667846	NM_001166686.2(PFKM):c.82+173A>G	PFKM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3036813	NM_001354735.1(PFKM):c.180G>T (p.Val60=)	PFKM	Single nucleotide variant (synonymous variant +2 more)	PFKM-related condition	GLikely benign
Select item 3048855	NM_001354735.1(PFKM):c.205+10G>A	PFKM	Single nucleotide variant (intron variant)	PFKM-related condition	GLikely benign
Select item 1201026	NM_001166686.2(PFKM):c.205+55A>C	PFKM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 676170	NM_001166686.2(PFKM):c.205+123A>G	PFKM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1201899	NM_001166686.2(PFKM):c.205+166G>A	PFKM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2578680	NM_001166686.2(PFKM):c.206-4289C>T	PFKM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1327006	NM_001354735.1(PFKM):c.226C>A (p.Gln76Lys)	PFKM (Q76K)	Single nucleotide variant (intron variant +3 more)	Glycogen storage disease, type VII	GBenign
Select item 2642927	NM_001166686.2(PFKM):c.206-4206A>G	PFKM	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 308942	NM_000289.5(PFKM):c.-177G>C	PFKM	Single nucleotide variant (5 prime UTR variant +1 more)	Glycogen storage disease, type VII +1 more	GUncertain significance
Select item 308943	NM_000289.5(PFKM):c.-176C>T	PFKM	Single nucleotide variant (5 prime UTR variant +1 more)	Glycogen storage disease, type VII	GUncertain significance
Select item 308944	NM_000289.5(PFKM):c.-174G>A	PFKM	Single nucleotide variant (5 prime UTR variant +1 more)	Glycogen storage disease, type VII	GUncertain significance
Select item 308945	NM_000289.5(PFKM):c.-171C>A	PFKM	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 308946	NM_000289.5(PFKM):c.-112T>G	PFKM	Single nucleotide variant (5 prime UTR variant +1 more)	Glycogen storage disease, type VII +1 more	GBenign
Select item 1163351	NM_000289.5(PFKM):c.-65C>A	PFKM	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 308947	NM_000289.5(PFKM):c.-64C>T	PFKM (L9F)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease, type VII	GUncertain significance
Select item 882999	NM_000289.6(PFKM):c.-17G>C	PFKM (K24N)	Single nucleotide variant (5 prime UTR variant +3 more)	Glycogen storage disease, type VII	GUncertain significance
Select item 1327255	NM_000289.6(PFKM):c.-9+86A>G	PFKM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 683488	NM_000289.6(PFKM):c.-8-457C>A	PFKM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 676169	NM_000289.6(PFKM):c.-8-254T>C	PFKM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 676173	NM_000289.6(PFKM):c.-8-86G>T	PFKM	Single nucleotide variant (5 prime UTR variant +1 more)	Glycogen storage disease, type VII +1 more	GBenign
Select item 3053121	NM_000289.6(PFKM):c.-8-4C>T	PFKM	Single nucleotide variant (5 prime UTR variant +1 more)	PFKM-related condition	GLikely benign
Select item 2677747	NM_000289.6(PFKM):c.-8-2A>G	PFKM	Single nucleotide variant (5 prime UTR variant +1 more)	Glycogen storage disease, type VII	GLikely pathogenic
Select item 596744	NM_000289.6(PFKM):c.5C>T (p.Thr2Ile)	PFKM (T2I +4 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2874727	NM_000289.6(PFKM):c.9T>C (p.His3=)	PFKM	Single nucleotide variant (synonymous variant +2 more)	Glycogen storage disease, type VII	GLikely benign
Select item 2751705	NM_000289.6(PFKM):c.15G>A (p.Glu5=)	PFKM	Single nucleotide variant (synonymous variant +2 more)	Glycogen storage disease, type VII	GLikely benign
Select item 2033286	NM_000289.6(PFKM):c.18C>T (p.His6=)	PFKM	Single nucleotide variant (synonymous variant +2 more)	Glycogen storage disease, type VII	GLikely benign
Select item 2689684	NM_000289.6(PFKM):c.20A>G (p.His7Arg)	PFKM (H110R +4 more)	Single nucleotide variant (missense variant +2 more)	Glycogen storage disease, type VII	GUncertain significance
Select item 2004770	NM_000289.6(PFKM):c.21dup (p.Ala8fs)	PFKM (A16fs +4 more)	Duplication (frameshift variant +2 more)	Glycogen storage disease, type VII	GPathogenic
Select item 1134285	NM_000289.6(PFKM):c.21T>C (p.His7=)	PFKM	Single nucleotide variant (synonymous variant +2 more)	Glycogen storage disease, type VII	GLikely benign
Select item 1725563	NM_000289.6(PFKM):c.31dup (p.Thr11fs)	PFKM (T114fs +4 more)	Duplication (frameshift variant +2 more)	Glycogen storage disease, type VII	GLikely pathogenic
Select item 2709837	NM_000289.6(PFKM):c.34C>T (p.Leu12=)	PFKM	Single nucleotide variant (synonymous variant +2 more)	Glycogen storage disease, type VII	GLikely benign
Select item 1138146	NM_000289.6(PFKM):c.36G>A (p.Leu12=)	PFKM	Single nucleotide variant (synonymous variant +2 more)	Glycogen storage disease, type VII	GLikely benign
Select item 1971709	NM_000289.6(PFKM):c.38G>A (p.Gly13Glu)	PFKM (G84E +4 more)	Single nucleotide variant (missense variant +2 more)	Glycogen storage disease, type VII	GUncertain significance
Select item 707828	NM_000289.6(PFKM):c.41T>C (p.Ile14Thr)	PFKM (I62T +4 more)	Single nucleotide variant (missense variant +2 more)	Glycogen storage disease, type VII +1 more	GConflicting classifications of pathogenicity
Select item 1312050	NM_000289.6(PFKM):c.52A>G (p.Ile18Val)	PFKM (I121V +4 more)	Single nucleotide variant (missense variant +2 more)	Glycogen storage disease, type VII +1 more	GUncertain significance
Select item 585161	NM_000289.6(PFKM):c.59T>C (p.Val20Ala)	PFKM (V20A +4 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1091967	NM_000289.6(PFKM):c.66C>G (p.Thr22=)	PFKM	Single nucleotide variant (synonymous variant +2 more)	Glycogen storage disease, type VII	GLikely benign
Select item 989544	NM_000289.6(PFKM):c.71G>C (p.Gly24Ala)	PFKM (G127A +4 more)	Single nucleotide variant (missense variant +2 more)	Glycogen storage disease, type VII	GUncertain significance
Select item 1398900	NM_000289.6(PFKM):c.74del (p.Gly25fs)	PFKM (G128fs +4 more)	Deletion (frameshift variant +2 more)	Glycogen storage disease, type VII	GPathogenic
Select item 2689678	NM_000289.6(PFKM):c.74G>T (p.Gly25Val)	PFKM (G128V +4 more)	Single nucleotide variant (missense variant +2 more)	Glycogen storage disease, type VII	GUncertain significance
Select item 2762682	NM_000289.6(PFKM):c.85+9del	PFKM	Deletion (intron variant)	Glycogen storage disease, type VII	GLikely benign
Select item 1533973	NM_000289.6(PFKM):c.85+8G>T	PFKM	Single nucleotide variant (intron variant)	Glycogen storage disease, type VII	GLikely benign
Select item 1654138	NM_000289.6(PFKM):c.85+9G>A	PFKM	Single nucleotide variant (intron variant)	Glycogen storage disease, type VII	GLikely benign
Select item 2693243	NM_000289.6(PFKM):c.85+11G>C	PFKM	Single nucleotide variant (intron variant)	Glycogen storage disease, type VII	GLikely benign
Select item 2897293	NM_000289.6(PFKM):c.85+13G>A	PFKM	Single nucleotide variant (intron variant)	Glycogen storage disease, type VII	GLikely benign
Select item 2888838	NM_000289.6(PFKM):c.85+16del	PFKM	Deletion (intron variant)	Glycogen storage disease, type VII	GLikely benign
Select item 2732285	NM_000289.6(PFKM):c.85+22dup	PFKM	Duplication (intron variant)	Glycogen storage disease, type VII	GBenign
Select item 1261114	NM_000289.6(PFKM):c.86-54G>T	PFKM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2919148	NM_000289.6(PFKM):c.86-14G>T	PFKM	Single nucleotide variant (intron variant)	Glycogen storage disease, type VII	GLikely benign
Select item 2853133	NM_000289.6(PFKM):c.86-8C>T	PFKM	Single nucleotide variant (intron variant)	Glycogen storage disease, type VII	GLikely benign
Select item 2025737	NM_000289.6(PFKM):c.86-5T>C	PFKM	Single nucleotide variant (intron variant)	Glycogen storage disease, type VII	GLikely benign
Select item 2677735	NM_000289.6(PFKM):c.86-1G>C	PFKM	Single nucleotide variant (splice acceptor variant +1 more)	Glycogen storage disease, type VII	GLikely pathogenic
Select item 2072792	NM_000289.6(PFKM):c.86G>A (p.Gly29Asp)	PFKM (G100D +4 more)	Single nucleotide variant (missense variant +3 more)	Glycogen storage disease, type VII	GUncertain significance
Select item 1589590	NM_000289.6(PFKM):c.93T>C (p.Asn31=)	PFKM	Single nucleotide variant (synonymous variant +2 more)	Glycogen storage disease, type VII	GLikely benign
Select item 2901901	NM_000289.6(PFKM):c.103dup (p.Arg35fs)	PFKM (R83fs +5 more)	Duplication (frameshift variant +2 more)	Glycogen storage disease, type VII	GPathogenic
Select item 384781	NM_000289.6(PFKM):c.103A>C (p.Arg35=)	PFKM	Single nucleotide variant (synonymous variant +2 more)	not specified +1 more	GLikely benign
Select item 1565094	NM_000289.6(PFKM):c.108T>C (p.Ala36=)	PFKM	Single nucleotide variant (synonymous variant +2 more)	Glycogen storage disease, type VII	GLikely benign
Select item 1987162	NM_000289.6(PFKM):c.114T>C (p.Val38=)	PFKM	Single nucleotide variant (synonymous variant +2 more)	Glycogen storage disease, type VII	GLikely benign
Select item 422391	NM_000289.6(PFKM):c.115C>T (p.Arg39Ter)	PFKM (R110* +5 more)	Single nucleotide variant (nonsense +2 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2137355	NM_000289.6(PFKM):c.116G>A (p.Arg39Gln)	PFKM (R10Q +5 more)	Single nucleotide variant (missense variant +2 more)	Glycogen storage disease, type VII	GLikely pathogenic
Select item 1157	NM_000289.6(PFKM):c.116G>T (p.Arg39Leu)	PFKM (R39L +5 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Glycogen storage disease, type VII	GPathogenic
Select item 1154	NM_000289.6(PFKM):c.116G>C (p.Arg39Pro)	PFKM (R39P +5 more)	Single nucleotide variant (missense variant +2 more)	Glycogen storage disease, type VII	GPathogenic/Likely pathogenic
Select item 1530585	NM_000289.6(PFKM):c.123T>C (p.Gly41=)	PFKM	Single nucleotide variant (synonymous variant +2 more)	Glycogen storage disease, type VII	GLikely benign
Select item 1085360	NM_000289.6(PFKM):c.129C>T (p.Phe43=)	PFKM	Single nucleotide variant (synonymous variant +2 more)	Glycogen storage disease, type VII	GLikely benign
Select item 1085203	NM_000289.6(PFKM):c.132C>T (p.Thr44=)	PFKM	Single nucleotide variant (synonymous variant +2 more)	Glycogen storage disease, type VII	GLikely benign
Select item 2140779	NM_000289.6(PFKM):c.133G>A (p.Gly45Ser)	PFKM (G148S +5 more)	Single nucleotide variant (missense variant +2 more)	Glycogen storage disease, type VII	GUncertain significance
Select item 1116927	NM_000289.6(PFKM):c.138C>T (p.Ala46=)	PFKM	Single nucleotide variant (synonymous variant +2 more)	Glycogen storage disease, type VII	GLikely benign
Select item 806876	NM_000289.6(PFKM):c.139C>T (p.Arg47Cys)	PFKM (R47C +5 more)	Single nucleotide variant (missense variant +2 more)	Glycogen storage disease, type VII +1 more	GUncertain significance
Select item 838536	NM_000289.6(PFKM):c.140G>A (p.Arg47His)	PFKM (R18H +5 more)	Single nucleotide variant (missense variant +2 more)	Glycogen storage disease, type VII	GUncertain significance
Select item 1905200	NM_000289.6(PFKM):c.147C>T (p.Phe49=)	PFKM	Single nucleotide variant (synonymous variant +2 more)	Glycogen storage disease, type VII	GLikely benign
Select item 2012395	NM_000289.6(PFKM):c.150T>C (p.Phe50=)	PFKM	Single nucleotide variant (synonymous variant +2 more)	Glycogen storage disease, type VII	GLikely benign
Select item 2891452	NM_000289.6(PFKM):c.156T>C (p.His52=)	PFKM	Single nucleotide variant (synonymous variant +2 more)	Glycogen storage disease, type VII	GLikely benign
Select item 1067544	NM_000289.6(PFKM):c.159+1G>T	PFKM	Single nucleotide variant (splice donor variant +1 more)	Glycogen storage disease, type VII	GLikely pathogenic
Select item 1121737	NM_000289.6(PFKM):c.159+10G>A	PFKM	Single nucleotide variant (intron variant)	Glycogen storage disease, type VII	GLikely benign
Select item 3003788	NM_000289.6(PFKM):c.159+11T>C	PFKM	Single nucleotide variant (intron variant)	Glycogen storage disease, type VII	GLikely benign
Select item 2882818	NM_000289.6(PFKM):c.159+14T>C	PFKM	Single nucleotide variant (intron variant)	Glycogen storage disease, type VII	GLikely benign
Select item 2996311	NM_000289.6(PFKM):c.159+16T>C	PFKM	Single nucleotide variant (intron variant)	Glycogen storage disease, type VII	GLikely benign
Select item 1237428	NM_000289.6(PFKM):c.159+89C>A	PFKM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261403	NM_000289.6(PFKM):c.160-305T>G	PFKM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 683490	NM_000289.6(PFKM):c.160-295A>G	PFKM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1203866	NM_000289.6(PFKM):c.160-260A>G	PFKM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1230016	NM_000289.6(PFKM):c.160-229A>G	PFKM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 255752	NM_000289.6(PFKM):c.160-44A>G	PFKM	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1961170	NM_000289.6(PFKM):c.160-18G>A	PFKM	Single nucleotide variant (intron variant)	Glycogen storage disease, type VII	GLikely benign
Select item 2954568	NM_000289.6(PFKM):c.160-16A>G	PFKM	Single nucleotide variant (intron variant)	Glycogen storage disease, type VII	GLikely benign
Select item 2736457	NM_000289.6(PFKM):c.160-14A>G	PFKM	Single nucleotide variant (intron variant)	Glycogen storage disease, type VII	GLikely benign
Select item 2912223	NM_000289.6(PFKM):c.160-13A>T	PFKM	Single nucleotide variant (intron variant)	Glycogen storage disease, type VII	GLikely benign
Select item 2178056	NM_000289.6(PFKM):c.160-13A>G	PFKM	Single nucleotide variant (intron variant)	Glycogen storage disease, type VII	GUncertain significance
Select item 2131451	NM_000289.6(PFKM):c.160-13A>C	PFKM	Single nucleotide variant (intron variant)	Glycogen storage disease, type VII	GLikely benign

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