6391[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC132088675, LOC132088682 +1585 more	Copy number gain	See cases	GPathogenic
Select item 58109	GRCh38/hg38 1q23.1-25.1(chr1:157747246-176021247)x3	ADAMTS4, ADCY10 +775 more	Copy number gain	See cases	GPathogenic
Select item 57465	GRCh38/hg38 1q23.2-24.1(chr1:159479887-166895086)x1	ADAMTS4, ALDH9A1 +371 more	Copy number loss	See cases	GPathogenic
Select item 639872	NC_000001.10:g.(?_160786670)_(161332233_?)dup	ARHGAP30, NECTIN4-AS1 +63 more	Duplication	Gastrointestinal stromal tumor +1 more	GUncertain significance
Select item 57815	GRCh38/hg38 1q23.3(chr1:160866658-161315114)x3	ADAMTS4, APOA2 +58 more	Copy number gain	See cases	GUncertain significance
Select item 243060	Single allele	MPZ, SDHC	Deletion	Charcot-Marie-Tooth disease type 1B	GLikely pathogenic
Select item 637322	NM_000530.8(MPZ):c.59C>T (p.Ser20Phe)	MPZ, SDHC (S20F)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2I +2 more	GUncertain significance
Select item 368837	NM_003001.5(SDHC):c.-38G>A	MPZ, SDHC	Single nucleotide variant	not specified +11 more	GBenign
Select item 876511	NM_003001.3(SDHC):c.-33C>T	SDHC	Single nucleotide variant	Hereditary pheochromocytoma-paraganglioma	GLikely benign
Select item 368838	NM_003001.5(SDHC):c.-32T>C	SDHC	Single nucleotide variant	not provided +3 more	GBenign
Select item 2575490	NM_003001.5(SDHC):c.-14G>C	SDHC	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 583465	NC_000001.10:g.(?_161284186)_(161332233_?)dup	SDHC	Duplication	Gastrointestinal stromal tumor +1 more	GUncertain significance
Select item 534384	NC_000001.11:g.(?_161314400)_(161362439_?)del	SDHC	Deletion	Paragangliomas 3 +1 more	GPathogenic
Select item 1750990	NM_003001.5(SDHC):c.-5C>T	SDHC	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1750980	NM_003001.5(SDHC):c.-5C>A	SDHC	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 486435	NM_003001.5(SDHC):c.-4C>T	SDHC	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 232369	NM_003001.5(SDHC):c.-3A>G	SDHC	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1784205	NM_003001.5(SDHC):c.-1G>A	SDHC	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2055039	NM_003001.5(SDHC):c.1A>C (p.Met1Leu)	SDHC (M1L)	Single nucleotide variant (missense variant +1 more)	Paragangliomas 3 +1 more	GPathogenic
Select item 653751	NM_003001.5(SDHC):c.1A>T (p.Met1Leu)	SDHC (M1L)	Single nucleotide variant (missense variant +1 more)	Gastrointestinal stromal tumor +1 more	GPathogenic
Select item 407060	NM_003001.5(SDHC):c.1A>G (p.Met1Val)	SDHC (M1V)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic
Select item 2943040	NM_003001.5(SDHC):c.2T>C (p.Met1Thr)	SDHC (M1T)	Single nucleotide variant (missense variant +3 more)	Gastrointestinal stromal tumor +1 more	GPathogenic
Select item 968839	NM_003001.5(SDHC):c.2T>G (p.Met1Arg)	SDHC (M1R)	Single nucleotide variant (missense variant +1 more)	Gastrointestinal stromal tumor +1 more	GLikely pathogenic
Select item 7241	NM_003001.5(SDHC):c.3G>A (p.Met1Ile)	SDHC (M1I)	Single nucleotide variant (missense variant +1 more)	Paragangliomas 3 +1 more	GPathogenic
Select item 852372	NM_003001.5(SDHC):c.4G>C (p.Ala2Pro)	SDHC (A2P)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor +1 more	GUncertain significance
Select item 465977	NM_003001.5(SDHC):c.4G>A (p.Ala2Thr)	SDHC (A2T)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor +2 more	GUncertain significance
Select item 2625945	NM_003001.5(SDHC):c.5C>T (p.Ala2Val)	SDHC (A2V)	Single nucleotide variant (missense variant +2 more)	Paragangliomas 3 +2 more	GUncertain significance
Select item 663942	NM_003001.5(SDHC):c.5C>G (p.Ala2Gly)	SDHC (A2G)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 2946701	NM_003001.5(SDHC):c.6T>A (p.Ala2=)	SDHC	Single nucleotide variant (synonymous variant +2 more)	Gastrointestinal stromal tumor +1 more	GLikely benign
Select item 1570436	NM_003001.5(SDHC):c.6T>G (p.Ala2=)	SDHC	Single nucleotide variant (synonymous variant +2 more)	Paragangliomas 3 +2 more	GLikely benign
Select item 220994	NM_003001.5(SDHC):c.6T>C (p.Ala2=)	SDHC	Single nucleotide variant (synonymous variant +2 more)	Gastrointestinal stromal tumor +2 more	GLikely benign
Select item 189840	NM_003001.5(SDHC):c.6del (p.Ala3fs)	SDHC (A3fs)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 2946953	NM_003001.5(SDHC):c.7G>C (p.Ala3Pro)	SDHC (A3P)	Single nucleotide variant (missense variant +2 more)	Gastrointestinal stromal tumor +1 more	GUncertain significance
Select item 407063	NM_003001.5(SDHC):c.7G>A (p.Ala3Thr)	SDHC (A3T)	Single nucleotide variant (missense variant)	Paragangliomas 3 +3 more	GUncertain significance
Select item 407053	NM_003001.5(SDHC):c.7G>T (p.Ala3Ser)	SDHC (A3S)	Single nucleotide variant (missense variant)	Paragangliomas 3 +4 more	GUncertain significance
Select item 950921	NM_003001.5(SDHC):c.8C>A (p.Ala3Glu)	SDHC (A3E)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor +2 more	GUncertain significance
Select item 161387	NM_003001.5(SDHC):c.8C>T (p.Ala3Val)	SDHC (A3V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
Select item 1768940	NM_003001.5(SDHC):c.9G>T (p.Ala3=)	SDHC	Single nucleotide variant (synonymous variant +2 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 696707	NM_003001.5(SDHC):c.9G>A (p.Ala3=)	SDHC	Single nucleotide variant (synonymous variant +2 more)	not provided +4 more	GLikely benign
Select item 2926321	NM_003001.5(SDHC):c.10C>T (p.Leu4=)	SDHC	Single nucleotide variant (synonymous variant +2 more)	Gastrointestinal stromal tumor +1 more	GLikely benign
Select item 534367	NM_003001.5(SDHC):c.10C>G (p.Leu4Val)	SDHC (L4V)	Single nucleotide variant (missense variant)	Paragangliomas 3 +1 more	GUncertain significance
Select item 1715971	NM_003001.5(SDHC):c.11T>A (p.Leu4Gln)	SDHC (L4Q)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor +1 more	GUncertain significance
Select item 967150	NM_003001.5(SDHC):c.11T>G (p.Leu4Arg)	SDHC (L4R)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor +1 more	GUncertain significance
Select item 371802	NM_003001.5(SDHC):c.11T>C (p.Leu4Pro)	SDHC (L4P)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1455528	NM_003001.5(SDHC):c.12G>A (p.Leu4=)	SDHC	Single nucleotide variant (synonymous variant +2 more)	Gastrointestinal stromal tumor +1 more	GLikely benign
Select item 993236	NM_003001.5(SDHC):c.12G>T (p.Leu4=)	SDHC	Single nucleotide variant (synonymous variant +2 more)	Hereditary cancer-predisposing syndrome +3 more	GLikely benign
Select item 663454	NM_003001.5(SDHC):c.13T>A (p.Leu5Met)	SDHC (L5M)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 577464	NM_003001.5(SDHC):c.14T>C (p.Leu5Ser)	SDHC (L5S)	Single nucleotide variant (missense variant)	Paragangliomas 3 +3 more	GUncertain significance
Select item 184591	NM_003001.5(SDHC):c.15G>T (p.Leu5Phe)	SDHC (L5F)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
Select item 945584	NM_003001.5(SDHC):c.16C>G (p.Leu6Val)	SDHC (L6V)	Single nucleotide variant (missense variant)	Paragangliomas 3 +1 more	GUncertain significance
Select item 546054	NM_003001.5(SDHC):c.17_18dup (p.Arg7Ter)	SDHC (R7* +1 more)	Duplication (frameshift variant +1 more)	Paragangliomas 3 +2 more	GPathogenic
Select item 855583	NM_003001.5(SDHC):c.17T>C (p.Leu6Pro)	SDHC (L6P)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor +1 more	GUncertain significance
Select item 793721	NM_003001.5(SDHC):c.18G>C (p.Leu6=)	SDHC	Single nucleotide variant (synonymous variant +2 more)	Gastrointestinal stromal tumor +1 more	GLikely benign
Select item 856348	NM_003001.5(SDHC):c.19A>C (p.Arg7=)	SDHC (S7R)	Single nucleotide variant (synonymous variant +3 more)	Gastrointestinal stromal tumor +1 more	GUncertain significance
Select item 1351620	NM_003001.5(SDHC):c.20G>A (p.Arg7Lys)	SDHC (S7N +1 more)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor +1 more	GUncertain significance
Select item 2949153	NM_003001.5(SDHC):c.20+1G>A	SDHC	Single nucleotide variant (5 prime UTR variant +1 more)	Gastrointestinal stromal tumor +1 more	GLikely pathogenic
Select item 1067029	NM_003001.5(SDHC):c.20+1G>T	SDHC	Single nucleotide variant (5 prime UTR variant +1 more)	Gastrointestinal stromal tumor +1 more	GLikely pathogenic
Select item 1014388	NM_003001.5(SDHC):c.20+3G>C	SDHC	Single nucleotide variant (5 prime UTR variant +1 more)	Paragangliomas 3 +1 more	GUncertain significance
Select item 407050	NM_003001.5(SDHC):c.20+3G>A	SDHC	Single nucleotide variant (5 prime UTR variant +1 more)	Paragangliomas 3 +1 more	GLikely benign
Select item 2118305	NM_003001.5(SDHC):c.20+4A>G	SDHC	Single nucleotide variant (5 prime UTR variant +1 more)	Paragangliomas 3 +1 more	GUncertain significance
Select item 1376152	NM_003001.5(SDHC):c.20+4del	SDHC	Deletion (5 prime UTR variant +1 more)	Paragangliomas 3 +2 more	GUncertain significance
Select item 957116	NM_003001.5(SDHC):c.20+5C>T	SDHC	Single nucleotide variant (5 prime UTR variant +1 more)	Gastrointestinal stromal tumor +1 more	GUncertain significance
Select item 2163749	NM_003001.5(SDHC):c.20+6T>A	SDHC	Single nucleotide variant (5 prime UTR variant +1 more)	Paragangliomas 3 +1 more	GUncertain significance
Select item 937771	NM_003001.5(SDHC):c.20+6T>G	SDHC	Single nucleotide variant (5 prime UTR variant +1 more)	Gastrointestinal stromal tumor +1 more	GUncertain significance
Select item 534379	NM_003001.5(SDHC):c.20+7T>G	SDHC	Single nucleotide variant (5 prime UTR variant +1 more)	Paragangliomas 3 +1 more	GLikely benign
Select item 1150906	NM_003001.5(SDHC):c.20+8C>T	SDHC	Single nucleotide variant (5 prime UTR variant +1 more)	Gastrointestinal stromal tumor +1 more	GLikely benign
Select item 799636	NM_003001.5(SDHC):c.20+8C>A	SDHC	Single nucleotide variant (5 prime UTR variant +1 more)	Gastrointestinal stromal tumor +1 more	GLikely benign
Select item 2024595	NM_003001.5(SDHC):c.20+9A>G	SDHC	Single nucleotide variant (5 prime UTR variant +1 more)	Gastrointestinal stromal tumor +1 more	GLikely benign
Select item 1146716	NM_003001.5(SDHC):c.20+10_20+11insCG	SDHC	Insertion (5 prime UTR variant +1 more)	Gastrointestinal stromal tumor +1 more	GLikely benign
Select item 1092818	NM_003001.5(SDHC):c.20+9A>C	SDHC	Single nucleotide variant (5 prime UTR variant +1 more)	Paragangliomas 3 +1 more	GLikely benign
Select item 44647	NM_003001.3(SDHC):c.20+11_20+12dup	MPZ, SDHC	Duplication (5 prime UTR variant +1 more)	Charcot-Marie-Tooth, Intermediate +9 more	GBenign
Select item 2940402	NM_003001.5(SDHC):c.20+11_20+12insTT	SDHC	Insertion (5 prime UTR variant +1 more)	Gastrointestinal stromal tumor +1 more	GLikely benign
Select item 414249	NM_003001.5(SDHC):c.20+10G>A	SDHC	Single nucleotide variant (5 prime UTR variant +1 more)	Gastrointestinal stromal tumor +1 more	GLikely benign
Select item 811691	NM_003001.5(SDHC):c.20+11_20+12insTG	SDHC	Insertion (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1533453	NM_003001.5(SDHC):c.20+12G>C	SDHC	Single nucleotide variant (5 prime UTR variant +1 more)	Gastrointestinal stromal tumor +1 more	GLikely benign
Select item 512130	NM_003001.5(SDHC):c.20+12_20+13insTA	SDHC	Insertion (5 prime UTR variant +1 more)	not specified +2 more	GLikely benign
Select item 2948959	NM_003001.5(SDHC):c.20+13G>A	SDHC	Single nucleotide variant (5 prime UTR variant +1 more)	Gastrointestinal stromal tumor +1 more	GLikely benign
Select item 2945929	NM_003001.5(SDHC):c.20+14G>A	SDHC	Single nucleotide variant (5 prime UTR variant +1 more)	Gastrointestinal stromal tumor +1 more	GLikely benign
Select item 1384899	NM_003001.5(SDHC):c.20+14G>T	SDHC	Single nucleotide variant (5 prime UTR variant +1 more)	Paragangliomas 3 +1 more	GUncertain significance
Select item 2943261	NM_003001.5(SDHC):c.20+15A>C	SDHC	Single nucleotide variant (5 prime UTR variant +1 more)	Gastrointestinal stromal tumor +1 more	GLikely benign
Select item 1559561	NM_003001.5(SDHC):c.20+16C>A	SDHC	Single nucleotide variant (5 prime UTR variant +1 more)	Paragangliomas 3 +1 more	GLikely benign
Select item 1587617	NM_003001.5(SDHC):c.20+17T>A	SDHC	Single nucleotide variant (5 prime UTR variant +1 more)	Paragangliomas 3 +1 more	GLikely benign
Select item 1615306	NM_003001.5(SDHC):c.20+18G>A	SDHC	Single nucleotide variant (5 prime UTR variant +1 more)	Gastrointestinal stromal tumor +1 more	GLikely benign
Select item 1412790	NM_003001.5(SDHC):c.20+20G>T	SDHC	Single nucleotide variant (5 prime UTR variant +1 more)	Gastrointestinal stromal tumor +1 more	GLikely benign
Select item 371923	NM_003001.5(SDHC):c.20+22G>C	SDHC	Single nucleotide variant (intron variant +1 more)	Paragangliomas 3 +1 more	GLikely benign
Select item 2575491	NM_003001.5(SDHC):c.20+42G>A	SDHC	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 677078	NM_003001.5(SDHC):c.20+82T>C	SDHC	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1989142	NM_003001.5(SDHC):c.20+98C>T	SDHC	Single nucleotide variant (5 prime UTR variant +1 more)	Gastrointestinal stromal tumor +1 more	GUncertain significance
Select item 1273270	NM_003001.5(SDHC):c.20+311C>T	SDHC	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 2050513	NM_003001.5(SDHC):c.20+4066C>G	SDHC	Single nucleotide variant (intron variant)	Gastrointestinal stromal tumor +1 more	GPathogenic
Select item 1281321	NM_003001.5(SDHC):c.21-211C>T	SDHC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282237	NM_003001.5(SDHC):c.21-189A>G	SDHC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1290940	NM_003001.5(SDHC):c.21-96C>T	SDHC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1786262	NM_003001.5(SDHC):c.21-22_30dup	SDHC	Duplication (splice acceptor variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1697955	NM_003001.5(SDHC):c.21-14C>T	SDHC	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 293316	NM_003001.5(SDHC):c.21-10dup	SDHC	Duplication (intron variant)	Pheochromocytoma +3 more	GConflicting classifications of pathogenicity
Select item 758279	NM_003001.5(SDHC):c.21-10T>C	SDHC	Single nucleotide variant (intron variant)	Gastrointestinal stromal tumor +1 more	GLikely benign
Select item 665034	NC_000001.10:g.(?_161293394)_(161332233_?)dup	SDHC	Duplication	Paragangliomas 3 +1 more	GUncertain significance
Select item 1149022	NM_003001.5(SDHC):c.21-9A>T	SDHC	Single nucleotide variant (intron variant)	Gastrointestinal stromal tumor +1 more	GLikely benign
Select item 1133061	NM_003001.5(SDHC):c.21-9A>G	SDHC	Single nucleotide variant (intron variant)	Gastrointestinal stromal tumor +1 more	GLikely benign

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