ClinVar for Gene (Select 644096) - ClinVar

Links from Gene

Items: 88

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3316865	NM_001042631.3(SDHAF1):c.65G>T (p.Gly22Val)	LOC130064279, SDHAF1 (G22V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3316864	NM_001042631.3(SDHAF1):c.64G>C (p.Gly22Arg)	LOC130064279, SDHAF1 (G22R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3316863	NM_001042631.3(SDHAF1):c.157C>T (p.Leu53=)	SDHAF1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3242311	GRCh37/hg19 19q13.11-13.12(chr19:35223021-36895699)x1	ALKBH6, APLP1 +63 more	Copy number loss	not provided	GPathogenic
Select item 3232607	NM_001042631.3(SDHAF1):c.90G>C (p.Ala30=)	LOC130064279, SDHAF1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3158922	NM_001042631.3(SDHAF1):c.58C>T (p.Arg20Cys)	LOC130064279, SDHAF1 (R20C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3158921	NM_001042631.3(SDHAF1):c.194G>T (p.Arg65Leu)	LOC130064280, SDHAF1 (R65L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3062386	GRCh37/hg19 19q11-13.2(chr19:28271146-41508851)x3	SLC7A9, SNRPA +215 more	Copy number gain	not specified	GPathogenic
Select item 3062377	GRCh37/hg19 19q13.12(chr19:36451071-36752221)x3	ALKBH6, CAPNS1 +11 more	Copy number gain	not specified	GUncertain significance
Select item 2714862	NM_001042631.3(SDHAF1):c.345G>A (p.Arg115=)	LOC130064281, SDHAF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2691857	NM_001042631.3(SDHAF1):c.95T>A (p.Val32Glu)	LOC130064279, SDHAF1 (V32E)	Single nucleotide variant (missense variant)	Mitochondrial complex 2 deficiency, nuclear type 2	GLikely pathogenic
Select item 2684891	GRCh37/hg19 19q13.12(chr19:36312941-36751702)x3	ALKBH6, APLP1 +18 more	Copy number gain	not provided	GUncertain significance
Select item 2671623	Single allele	ALKBH6, APLP1 +72 more	Deletion	not provided	GPathogenic
Select item 2649763	NM_001042631.3(SDHAF1):c.135C>A (p.Ser45=)	SDHAF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2615208	NM_001042631.3(SDHAF1):c.173G>C (p.Arg58Pro)	LOC130064280, SDHAF1 (R58P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2606263	NM_001042631.3(SDHAF1):c.49G>C (p.Asp17His)	LOC130064279, SDHAF1 (D17H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2584803	NM_001042631.3(SDHAF1):c.43T>G (p.Tyr15Asp)	SDHAF1, LOC130064279 (Y15D)	Single nucleotide variant (missense variant)	Mitochondrial complex 2 deficiency, nuclear type 2	GUncertain significance
Select item 2495479	NM_001042631.3(SDHAF1):c.110G>A (p.Arg37Gln)	SDHAF1 (R37Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2424426	NC_000019.9:g.(?_33167170)_(36643309_?)dup	ALKBH6, APLP1 +83 more	Duplication	Hereditary spastic paraplegia 75	GUncertain significance
Select item 2421702	NM_001042631.3(SDHAF1):c.73A>C (p.Lys25Gln)	SDHAF1, LOC130064279 (K25Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2405520	NM_001042631.3(SDHAF1):c.297G>C (p.Arg99Ser)	LOC130064281, SDHAF1 (R99S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2391065	NM_001042631.3(SDHAF1):c.278ACG[1] (p.Asp94del)	LOC130064281, SDHAF1 (D94del)	Microsatellite (inframe_deletion)	Inborn genetic diseases	GUncertain significance
Select item 2309939	NM_001042631.3(SDHAF1):c.253C>T (p.Pro85Ser)	LOC130064281, SDHAF1 (P85S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2052601	NM_001042631.3(SDHAF1):c.312C>T (p.Ser104=)	LOC130064281, SDHAF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1976923	NM_001042631.3(SDHAF1):c.20T>C (p.Leu7Pro)	SDHAF1 (L7P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1976849	NM_001042631.3(SDHAF1):c.115C>G (p.His39Asp)	SDHAF1 (H39D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1973119	NM_001042631.3(SDHAF1):c.172C>T (p.Arg58Trp)	LOC130064280, SDHAF1 (R58W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1927948	NM_001042631.3(SDHAF1):c.43T>C (p.Tyr15His)	LOC130064279, SDHAF1 (Y15H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1924438	NM_001042631.3(SDHAF1):c.197C>T (p.Ser66Leu)	LOC130064280, SDHAF1 (S66L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1921025	NM_001042631.3(SDHAF1):c.116A>C (p.His39Pro)	SDHAF1 (H39P)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1779376	NM_001042631.3(SDHAF1):c.174G>T (p.Arg58=)	LOC130064280, SDHAF1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1699123	NM_001042631.3(SDHAF1):c.28C>T (p.Gln10Ter)	LOC130064279, SDHAF1 (Q10*)	Single nucleotide variant (nonsense)	Mitochondrial complex 2 deficiency, nuclear type 2	GPathogenic
Select item 1656425	NM_001042631.3(SDHAF1):c.42G>C (p.Leu14=)	LOC130064279, SDHAF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1632188	NM_001042631.3(SDHAF1):c.66G>A (p.Gly22=)	LOC130064279, SDHAF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1559900	NM_001042631.3(SDHAF1):c.279C>T (p.Asp93=)	LOC130064281, SDHAF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1530200	NM_001042631.3(SDHAF1):c.45C>T (p.Tyr15=)	LOC130064279, SDHAF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1490232	NM_001042631.3(SDHAF1):c.17G>C (p.Arg6Pro)	SDHAF1 (R6P)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1476825	NM_001042631.3(SDHAF1):c.121G>A (p.Gly41Ser)	SDHAF1 (G41S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1434459	NM_001042631.3(SDHAF1):c.151G>C (p.Glu51Gln)	SDHAF1 (E51Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1412985	NC_000019.9:g.(?_35521725)_(36643309_?)del	ALKBH6, APLP1 +54 more	Deletion	Brugada syndrome 5	GUncertain significance
Select item 1410067	NC_000019.9:g.(?_36486177)_(36486524_?)del	SDHAF1	Deletion	not provided	GUncertain significance
Select item 1398511	NM_001042631.3(SDHAF1):c.5G>A (p.Ser2Asn)	SDHAF1 (S2N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1340392	GRCh37/hg19 19q13.12(chr19:36019064-36516110)x3	ALKBH6, APLP1 +28 more	Copy number gain	not provided	GUncertain significance
Select item 1330177	GRCh37/hg19 19p13.11-q13.2(chr19:19546923-41313229)x3	ACP7, ACTMAP +255 more	Copy number gain	Specific learning disability	GPathogenic
Select item 1263124	NC_000019.10:g.35995039C>T	SDHAF1	Single nucleotide variant	not provided	GBenign
Select item 1239342	NC_000019.10:g.35994893A>C	SDHAF1	Single nucleotide variant	not provided	GBenign
Select item 1191089	NM_001042631.3(SDHAF1):c.*16A>G	LOC130064281, SDHAF1	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1033243	NM_001042631.3(SDHAF1):c.*5C>A	LOC130064281, SDHAF1	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex II deficiency, nuclear type 1	GUncertain significance
Select item 1027545	NM_001042631.3(SDHAF1):c.170G>A (p.Gly57Glu)	LOC130064280, SDHAF1 (G57E)	Single nucleotide variant (missense variant)	Mitochondrial complex 2 deficiency, nuclear type 2	GPathogenic
Select item 996867	NM_001042631.3(SDHAF1):c.319G>T (p.Ala107Ser)	LOC130064281, SDHAF1 (A107S)	Single nucleotide variant (missense variant)	Mitochondrial complex II deficiency, nuclear type 1	GUncertain significance
Select item 890929	NM_001042631.3(SDHAF1):c.*327C>A	SDHAF1	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex II deficiency, nuclear type 1	GUncertain significance
Select item 890928	NM_001042631.3(SDHAF1):c.*323C>G	SDHAF1	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex II deficiency, nuclear type 1	GUncertain significance
Select item 890371	NM_001042631.3(SDHAF1):c.*248C>T	SDHAF1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 890370	NM_001042631.3(SDHAF1):c.*229C>T	SDHAF1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 890369	NM_001042631.3(SDHAF1):c.*66G>A	SDHAF1	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex II deficiency, nuclear type 1	GUncertain significance
Select item 890368	NM_001042631.3(SDHAF1):c.117T>C (p.His39=)	SDHAF1	Single nucleotide variant (synonymous variant)	Mitochondrial complex II deficiency, nuclear type 1	GUncertain significance
Select item 888668	NM_001042631.3(SDHAF1):c.49G>A (p.Asp17Asn)	LOC130064279, SDHAF1 (D17N)	Single nucleotide variant (missense variant)	Mitochondrial complex II deficiency, nuclear type 1	GUncertain significance
Select item 888667	NM_001042631.3(SDHAF1):c.46C>T (p.Arg16Cys)	LOC130064279, SDHAF1 (R16C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 888666	NM_001042631.3(SDHAF1):c.3G>A (p.Met1Ile)	SDHAF1 (M1I)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex II deficiency, nuclear type 1	GUncertain significance
Select item 691614	NM_001042631.3(SDHAF1):c.29A>C (p.Gln10Pro)	LOC130064279, SDHAF1 (Q10P)	Single nucleotide variant (missense variant)	Mitochondrial complex II deficiency, nuclear type 1	GUncertain significance
Select item 685025	GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3	ZNF607, ZNF780A +432 more	Copy number gain	not provided	GPathogenic
Select item 625760	GRCh37/hg19 19q13.11-13.12(chr19:35111811-37744992)	ALKBH6, APLP1 +79 more	Copy number loss	Generalized epilepsy with febrile seizures plus, type 1	GPathogenic
Select item 618361	NM_001042631.3(SDHAF1):c.321A>C (p.Ala107=)	LOC130064281, SDHAF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 512768	NM_001042631.3(SDHAF1):c.225C>T (p.Phe75=)	SDHAF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 442794	GRCh37/hg19 19q13.12(chr19:36147111-37249653)x1	ALKBH6, APLP1 +39 more	Copy number loss	See cases	GUncertain significance
Select item 426195	NM_001042631.3(SDHAF1):c.22C>T (p.Gln8Ter)	LOC130064279, SDHAF1 (Q8*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 395488	GRCh37/hg19 19q13.12(chr19:36428093-36506569)x3	ALKBH6, CLIP3 +3 more	Copy number gain	See cases	GLikely benign
Select item 388887	NM_001042631.3(SDHAF1):c.309C>T (p.Asp103=)	LOC130064281, SDHAF1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 381074	NM_001042631.3(SDHAF1):c.-37C>T	SDHAF1	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 328903	NM_001042631.3(SDHAF1):c.*682A>T	SDHAF1	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex II deficiency, nuclear type 1	GUncertain significance
Select item 328902	NM_001042631.3(SDHAF1):c.*622A>G	SDHAF1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 328901	NM_001042631.3(SDHAF1):c.*329G>C	SDHAF1	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex II deficiency, nuclear type 1	GUncertain significance
Select item 328900	NM_001042631.3(SDHAF1):c.*156G>T	SDHAF1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 328899	NM_001042631.3(SDHAF1):c.-64C>G	SDHAF1	Single nucleotide variant (5 prime UTR variant)	Mitochondrial complex II deficiency, nuclear type 1	GUncertain significance
Select item 280451	NM_001042631.3(SDHAF1):c.156C>A (p.Tyr52Ter)	SDHAF1 (Y52*)	Single nucleotide variant (nonsense)	Mitochondrial complex II deficiency, nuclear type 1 +2 more	GPathogenic/Likely pathogenic
Select item 253766	GRCh37/hg19 19q13.12-13.13(chr19:36475577-38399402)x3	SIPA1L3, ALKBH6 +41 more	Copy number gain	See cases	GUncertain significance
Select item 215135	NM_001042631.3(SDHAF1):c.143T>A (p.Leu48Gln)	SDHAF1 (L48Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 215134	NM_001042631.3(SDHAF1):c.4A>C (p.Ser2Arg)	SDHAF1 (S2R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 193150	NM_001042631.3(SDHAF1):c.269G>C (p.Cys90Ser)	LOC130064281, SDHAF1 (C90S)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 147631	GRCh38/hg38 19q12-13.13(chr19:29671324-37902990)x1	ALKBH6, ANKRD27 +439 more	Copy number loss	See cases	GPathogenic
Select item 146619	GRCh38/hg38 19q12-13.13(chr19:29661858-38114723)x1	ALKBH6, ANKRD27 +459 more	Copy number loss	See cases	GPathogenic
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 139090	NM_001042631.3(SDHAF1):c.334C>T (p.Pro112Ser)	LOC130064281, SDHAF1 (P112S)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 139089	NM_001042631.3(SDHAF1):c.333C>G (p.Arg111=)	SDHAF1, LOC130064281	Single nucleotide variant (synonymous variant)	Mitochondrial complex II deficiency, nuclear type 1 +2 more	GBenign/Likely benign
Select item 430	NM_001042631.3(SDHAF1):c.164G>C (p.Arg55Pro)	LOC130064280, SDHAF1 (R55P)	Single nucleotide variant (missense variant)	Mitochondrial complex 2 deficiency, nuclear type 2	GPathogenic
Select item 429	NM_001042631.3(SDHAF1):c.169G>C (p.Gly57Arg)	LOC130064280, SDHAF1 (G57R)	Single nucleotide variant (missense variant)	Mitochondrial complex 2 deficiency, nuclear type 2	GPathogenic

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Items: 88