ClinVar for MedGen (Select 481622) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from MedGen

Items: 1 to 100 of 1000

<< First< Prev

Page of 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3338666	NM_004168.4(SDHA):c.964C>T (p.Gln322Ter)	SDHA (Q274* +1 more)	Single nucleotide variant (nonsense)	Paragangliomas 5	GLikely pathogenic
Select item 3254407	NM_004168.4(SDHA):c.9_10dup (p.Val4fs)	SDHA (V4fs)	Duplication (frameshift variant)	Paragangliomas 5 +1 more	GPathogenic
Select item 3254392	NM_004168.4(SDHA):c.1192del (p.Glu398fs)	SDHA (E350fs +1 more)	Deletion (frameshift variant)	Paragangliomas 5	GPathogenic
Select item 3148704	NM_004168.4(SDHA):c.1373T>A (p.Leu458Ter)	SDHA (L410* +1 more)	Single nucleotide variant (nonsense)	Paragangliomas 5	GPathogenic
Select item 3148642	NM_004168.4(SDHA):c.596_599del (p.Ser199fs)	SDHA (S199fs +1 more)	Deletion (frameshift variant)	Paragangliomas 5	GPathogenic
Select item 3148638	NM_004168.4(SDHA):c.1367C>A (p.Ser456Ter)	SDHA (S408* +1 more)	Single nucleotide variant (nonsense)	Paragangliomas 5	GPathogenic
Select item 3148632	NM_004168.4(SDHA):c.1608del (p.Cys536fs)	SDHA (C536fs +1 more)	Deletion (frameshift variant +1 more)	Paragangliomas 5	GPathogenic
Select item 3148534	NM_004168.4(SDHA):c.1663G>T (p.Gly555Ter)	SDHA (G507* +1 more)	Single nucleotide variant (nonsense +1 more)	Paragangliomas 5	GPathogenic
Select item 2954332	NM_004168.4(SDHA):c.347A>G (p.Glu116Gly)	SDHA (E116G)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex II deficiency, nuclear type 1 +1 more	GUncertain significance
Select item 2954269	NM_004168.4(SDHA):c.1438A>T (p.Lys480Ter)	SDHA (K432* +1 more)	Single nucleotide variant (nonsense)	Mitochondrial complex II deficiency, nuclear type 1 +1 more	GPathogenic
Select item 2954077	NM_004168.4(SDHA):c.1335G>C (p.Ser445=)	SDHA	Single nucleotide variant (synonymous variant)	Mitochondrial complex II deficiency, nuclear type 1 +1 more	GLikely benign
Select item 2954029	NM_004168.4(SDHA):c.1589G>A (p.Ser530Asn)	SDHA (S530N +1 more)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex II deficiency, nuclear type 1 +1 more	GUncertain significance
Select item 2953947	NM_004168.4(SDHA):c.1194G>T (p.Glu398Asp)	SDHA (E350D +1 more)	Single nucleotide variant (missense variant)	Mitochondrial complex II deficiency, nuclear type 1 +1 more	GUncertain significance
Select item 2953867	NM_004168.4(SDHA):c.150+14T>C	SDHA	Single nucleotide variant (intron variant)	Mitochondrial complex II deficiency, nuclear type 1 +1 more	GLikely benign
Select item 2953588	NM_004168.4(SDHA):c.726G>T (p.Gly242=)	SDHA	Single nucleotide variant (synonymous variant)	Paragangliomas 5 +1 more	GLikely benign
Select item 2953443	NM_004168.4(SDHA):c.1354del (p.Leu452fs)	SDHA (L404fs +1 more)	Deletion (frameshift variant)	Paragangliomas 5 +1 more	GPathogenic
Select item 2953410	NM_004168.4(SDHA):c.1027G>T (p.Val343Leu)	SDHA (V295L +1 more)	Single nucleotide variant (missense variant)	Paragangliomas 5 +1 more	GUncertain significance
Select item 2953400	NM_004168.4(SDHA):c.456+7G>A	SDHA	Single nucleotide variant (intron variant)	Paragangliomas 5 +1 more	GUncertain significance
Select item 2953167	NM_004168.4(SDHA):c.1261-16A>G	SDHA	Single nucleotide variant (intron variant)	Paragangliomas 5 +1 more	GLikely benign
Select item 2953142	NM_004168.4(SDHA):c.1211C>T (p.Pro404Leu)	SDHA (P404L +1 more)	Single nucleotide variant (missense variant)	Paragangliomas 5 +1 more	GUncertain significance
Select item 2952817	NM_004168.4(SDHA):c.842C>T (p.Thr281Ile)	SDHA (T233I +1 more)	Single nucleotide variant (missense variant)	Paragangliomas 5 +1 more	GUncertain significance
Select item 2952584	NM_004168.4(SDHA):c.1436A>T (p.Asp479Val)	SDHA (D431V +1 more)	Single nucleotide variant (missense variant)	Paragangliomas 5 +1 more	GUncertain significance
Select item 2952309	NM_004168.4(SDHA):c.483C>G (p.Ser161Arg)	SDHA (S113R +1 more)	Single nucleotide variant (missense variant)	Paragangliomas 5 +1 more	GUncertain significance
Select item 2952213	NM_004168.4(SDHA):c.666G>A (p.Leu222=)	SDHA	Single nucleotide variant (synonymous variant)	Paragangliomas 5 +1 more	GLikely benign
Select item 2952175	NM_004168.4(SDHA):c.1956T>C (p.Ala652=)	SDHA	Single nucleotide variant (synonymous variant)	Paragangliomas 5 +1 more	GLikely benign
Select item 2952093	NM_004168.4(SDHA):c.634_636delinsACC (p.Asp212Thr)	SDHA (D212T +1 more)	Indel (missense variant)	Paragangliomas 5 +1 more	GUncertain significance
Select item 2952057	NM_004168.4(SDHA):c.450G>C (p.Val150=)	SDHA	Single nucleotide variant (synonymous variant +1 more)	Paragangliomas 5 +1 more	GLikely benign
Select item 2951895	NM_004168.4(SDHA):c.1756A>C (p.Lys586Gln)	SDHA (K586Q +1 more)	Single nucleotide variant (missense variant +1 more)	Paragangliomas 5 +1 more	GUncertain significance
Select item 2951864	NM_004168.4(SDHA):c.580G>A (p.Asp194Asn)	SDHA (D194N +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 2951848	NM_004168.4(SDHA):c.1563T>A (p.Asn521Lys)	SDHA (N473K +1 more)	Single nucleotide variant (missense variant +1 more)	Paragangliomas 5 +1 more	GUncertain significance
Select item 2951830	NM_004168.4(SDHA):c.514_517dup (p.Phe173fs)	SDHA (F173fs +1 more)	Duplication (frameshift variant)	Paragangliomas 5 +1 more	GPathogenic
Select item 2951787	NM_004168.4(SDHA):c.192A>G (p.Ala64=)	SDHA	Single nucleotide variant (synonymous variant)	Paragangliomas 5 +1 more	GLikely benign
Select item 2951767	NM_004168.4(SDHA):c.37G>A (p.Ala13Thr)	SDHA (A13T)	Single nucleotide variant (missense variant)	Paragangliomas 5 +1 more	GUncertain significance
Select item 2951596	NM_004168.4(SDHA):c.949A>G (p.Ile317Val)	SDHA (I269V +1 more)	Single nucleotide variant (missense variant)	Paragangliomas 5 +1 more	GUncertain significance
Select item 2951572	NM_004168.4(SDHA):c.1552-2591A>G	SDHA	Single nucleotide variant (intron variant)	Paragangliomas 5 +1 more	GPathogenic
Select item 2951499	NM_004168.4(SDHA):c.1114C>T (p.Pro372Ser)	SDHA (P324S +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 2951468	NM_004168.4(SDHA):c.920T>C (p.Ile307Thr)	SDHA (I307T +1 more)	Single nucleotide variant (missense variant)	Paragangliomas 5 +1 more	GUncertain significance
Select item 2951434	NM_004168.4(SDHA):c.1663+16G>C	SDHA	Single nucleotide variant (intron variant)	Paragangliomas 5 +1 more	GLikely benign
Select item 2951374	NM_004168.4(SDHA):c.1330G>A (p.Ala444Thr)	SDHA (A396T +1 more)	Single nucleotide variant (missense variant)	Paragangliomas 5 +1 more	GUncertain significance
Select item 2951265	NM_004168.4(SDHA):c.1432+1G>A	SDHA	Single nucleotide variant (splice donor variant)	Paragangliomas 5 +1 more	GLikely pathogenic
Select item 2951262	NM_004168.4(SDHA):c.954del (p.Ile319fs)	SDHA (I271fs +1 more)	Deletion (frameshift variant)	Paragangliomas 5 +1 more	GPathogenic
Select item 2951173	NM_004168.4(SDHA):c.1192_1193delinsAT (p.Glu398Met)	SDHA (E350M +1 more)	Indel (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 2951151	NM_004168.4(SDHA):c.1551+16C>G	SDHA	Single nucleotide variant (intron variant)	Paragangliomas 5 +1 more	GLikely benign
Select item 2951070	NM_004168.4(SDHA):c.976T>C (p.Phe326Leu)	SDHA (F278L +1 more)	Single nucleotide variant (missense variant)	Paragangliomas 5 +1 more	GUncertain significance
Select item 2951067	NM_004168.4(SDHA):c.1065-18G>C	SDHA	Single nucleotide variant (intron variant)	Paragangliomas 5 +1 more	GLikely benign
Select item 2951037	NM_004168.4(SDHA):c.986G>C (p.Arg329Pro)	SDHA (R281P +1 more)	Single nucleotide variant (missense variant)	Paragangliomas 5 +1 more	GUncertain significance
Select item 2950960	NM_004168.4(SDHA):c.1441G>A (p.Val481Ile)	SDHA (V481I +1 more)	Single nucleotide variant (missense variant)	Paragangliomas 5 +1 more	GUncertain significance
Select item 2950644	NM_004168.4(SDHA):c.1064+9G>A	SDHA	Single nucleotide variant (intron variant)	Paragangliomas 5 +1 more	GLikely benign
Select item 2950620	NM_004168.4(SDHA):c.181G>C (p.Glu61Gln)	SDHA (E61Q)	Single nucleotide variant (missense variant)	Paragangliomas 5 +1 more	GUncertain significance
Select item 2950572	NM_004168.4(SDHA):c.611T>C (p.Leu204Ser)	SDHA (L204S +1 more)	Single nucleotide variant (missense variant)	Paragangliomas 5 +1 more	GUncertain significance
Select item 2949662	NM_004168.4(SDHA):c.312+12G>T	SDHA	Single nucleotide variant (intron variant)	Mitochondrial complex II deficiency, nuclear type 1 +1 more	GLikely benign
Select item 2949629	NM_004168.4(SDHA):c.1270C>T (p.His424Tyr)	SDHA (H424Y +1 more)	Single nucleotide variant (missense variant)	Mitochondrial complex II deficiency, nuclear type 1 +1 more	GUncertain significance
Select item 2949606	NM_004168.4(SDHA):c.1037C>A (p.Ser346Tyr)	SDHA (S298Y +1 more)	Single nucleotide variant (missense variant)	Mitochondrial complex II deficiency, nuclear type 1 +1 more	GUncertain significance
Select item 2949586	NM_004168.4(SDHA):c.158C>G (p.Ala53Gly)	SDHA (A53G)	Single nucleotide variant (missense variant)	Mitochondrial complex II deficiency, nuclear type 1 +1 more	GUncertain significance
Select item 2949565	NM_004168.4(SDHA):c.1794+6_1794+7dup	SDHA	Duplication (intron variant)	Mitochondrial complex II deficiency, nuclear type 1 +1 more	GLikely benign
Select item 2949453	NM_004168.4(SDHA):c.1671C>G (p.Val557=)	SDHA	Single nucleotide variant (synonymous variant +1 more)	Mitochondrial complex II deficiency, nuclear type 1 +1 more	GLikely benign
Select item 2949364	NM_004168.4(SDHA):c.1975C>G (p.Pro659Ala)	SDHA (P659A +2 more)	Single nucleotide variant (missense variant)	Mitochondrial complex II deficiency, nuclear type 1 +1 more	GUncertain significance
Select item 2949218	NM_004168.4(SDHA):c.1064+2T>C	SDHA	Single nucleotide variant (splice donor variant)	Mitochondrial complex II deficiency, nuclear type 1 +1 more	GLikely pathogenic
Select item 2949151	NM_004168.4(SDHA):c.38C>A (p.Ala13Asp)	SDHA (A13D)	Single nucleotide variant (missense variant)	Mitochondrial complex II deficiency, nuclear type 1 +1 more	GUncertain significance
Select item 2949020	NM_004168.4(SDHA):c.1286A>T (p.Asp429Val)	SDHA (D381V +1 more)	Single nucleotide variant (missense variant)	Mitochondrial complex II deficiency, nuclear type 1 +1 more	GUncertain significance
Select item 2948988	NM_004168.4(SDHA):c.1237A>C (p.Ile413Leu)	SDHA (I413L +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 2948763	NM_004168.4(SDHA):c.1432+20G>A	SDHA	Single nucleotide variant (intron variant)	Mitochondrial complex II deficiency, nuclear type 1 +1 more	GLikely benign
Select item 2948693	NM_004168.4(SDHA):c.1125G>T (p.Gln375His)	SDHA (Q327H +1 more)	Single nucleotide variant (missense variant)	Mitochondrial complex II deficiency, nuclear type 1 +2 more	GUncertain significance
Select item 2948580	NM_004168.4(SDHA):c.681G>T (p.Glu227Asp)	SDHA (E179D +1 more)	Single nucleotide variant (missense variant)	Mitochondrial complex II deficiency, nuclear type 1 +1 more	GUncertain significance
Select item 2948453	NM_004168.4(SDHA):c.1964C>T (p.Ala655Val)	SDHA (A607V +2 more)	Single nucleotide variant (missense variant)	Mitochondrial complex II deficiency, nuclear type 1 +1 more	GUncertain significance
Select item 2948408	NM_004168.4(SDHA):c.1282C>G (p.Gln428Glu)	SDHA (Q380E +1 more)	Single nucleotide variant (missense variant)	Mitochondrial complex II deficiency, nuclear type 1 +1 more	GUncertain significance
Select item 2948374	NM_004168.4(SDHA):c.1045_1046del (p.Leu349fs)	SDHA (L349fs +1 more)	Microsatellite (frameshift variant)	Paragangliomas 5 +1 more	GPathogenic
Select item 2948373	NM_004168.4(SDHA):c.621+12C>A	SDHA	Single nucleotide variant (intron variant)	Mitochondrial complex II deficiency, nuclear type 1 +1 more	GLikely benign
Select item 2948234	NM_004168.4(SDHA):c.536A>G (p.Lys179Arg)	SDHA (K179R +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 2948211	NM_004168.4(SDHA):c.1789_1791del (p.Tyr597del)	SDHA (Y597del +1 more)	Deletion (inframe_deletion +1 more)	Mitochondrial complex II deficiency, nuclear type 1 +1 more	GUncertain significance
Select item 2947835	NM_004168.4(SDHA):c.727T>C (p.Ser243Pro)	SDHA (S195P +1 more)	Single nucleotide variant (missense variant)	Mitochondrial complex II deficiency, nuclear type 1 +1 more	GUncertain significance
Select item 2947765	NM_004168.4(SDHA):c.1552-1G>C	SDHA	Single nucleotide variant (splice acceptor variant +1 more)	Mitochondrial complex II deficiency, nuclear type 1 +1 more	GLikely pathogenic
Select item 2947643	NM_004168.4(SDHA):c.1080G>T (p.Glu360Asp)	SDHA (E312D +1 more)	Single nucleotide variant (missense variant)	Mitochondrial complex II deficiency, nuclear type 1 +1 more	GUncertain significance
Select item 2947344	NM_004168.4(SDHA):c.1043C>G (p.Thr348Ser)	SDHA (T348S +1 more)	Single nucleotide variant (missense variant)	Mitochondrial complex II deficiency, nuclear type 1 +1 more	GUncertain significance
Select item 2947248	NM_004168.4(SDHA):c.431A>C (p.Glu144Ala)	SDHA (E144A)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex II deficiency, nuclear type 1 +1 more	GUncertain significance
Select item 2946709	NM_004168.4(SDHA):c.464del (p.Asn155fs)	SDHA (N107fs +1 more)	Deletion (frameshift variant)	Paragangliomas 5 +1 more	GPathogenic
Select item 2946557	NM_004168.4(SDHA):c.1190A>T (p.Lys397Met)	SDHA (K349M +1 more)	Single nucleotide variant (missense variant)	Mitochondrial complex II deficiency, nuclear type 1 +1 more	GUncertain significance
Select item 2946317	NM_004168.4(SDHA):c.1424G>T (p.Cys475Phe)	SDHA (C427F +1 more)	Single nucleotide variant (missense variant)	Mitochondrial complex II deficiency, nuclear type 1 +1 more	GUncertain significance
Select item 2946130	NM_004168.4(SDHA):c.758TTG[1] (p.Val254del)	SDHA (V254del +1 more)	Microsatellite (inframe_deletion)	Mitochondrial complex II deficiency, nuclear type 1 +1 more	GUncertain significance
Select item 2946113	NM_004168.4(SDHA):c.313-12del	SDHA	Deletion (intron variant)	Mitochondrial complex II deficiency, nuclear type 1 +1 more	GUncertain significance
Select item 2946099	NM_004168.4(SDHA):c.1669G>A (p.Val557Ile)	SDHA (V509I +1 more)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex II deficiency, nuclear type 1 +2 more	GUncertain significance
Select item 2946027	NM_004168.4(SDHA):c.1552-4A>C	SDHA	Single nucleotide variant (intron variant)	Mitochondrial complex II deficiency, nuclear type 1 +2 more	GLikely benign
Select item 2945857	NM_004168.4(SDHA):c.1746A>T (p.Ala582=)	SDHA	Single nucleotide variant (synonymous variant +1 more)	Mitochondrial complex II deficiency, nuclear type 1 +1 more	GLikely benign
Select item 2945327	NM_004168.4(SDHA):c.1526del (p.Ser509fs)	SDHA (S509fs +1 more)	Deletion (frameshift variant)	Paragangliomas 5 +1 more	GPathogenic
Select item 2945284	NM_004168.4(SDHA):c.351del (p.Asp117fs)	SDHA (D117fs)	Deletion (frameshift variant +1 more)	Paragangliomas 5 +1 more	GPathogenic
Select item 2945283	NM_004168.4(SDHA):c.1396del (p.Ala466fs)	SDHA (A466fs +1 more)	Deletion (frameshift variant)	Paragangliomas 5 +1 more	GPathogenic
Select item 2945192	NM_004168.4(SDHA):c.1794+4G>A	SDHA	Single nucleotide variant (intron variant)	Paragangliomas 5 +1 more	GUncertain significance
Select item 2945018	NM_004168.4(SDHA):c.845G>A (p.Arg282Lys)	SDHA (R282K +1 more)	Single nucleotide variant (missense variant)	Paragangliomas 5 +1 more	GUncertain significance
Select item 2944768	NM_004168.4(SDHA):c.63+15C>A	SDHA	Single nucleotide variant (intron variant)	Paragangliomas 5 +1 more	GLikely benign
Select item 2944547	NM_004168.4(SDHA):c.1552-10T>C	SDHA	Single nucleotide variant (intron variant)	Paragangliomas 5 +1 more	GLikely benign
Select item 2944534	NM_004168.4(SDHA):c.1229T>G (p.Met410Arg)	SDHA (M410R +1 more)	Single nucleotide variant (missense variant)	Paragangliomas 5 +1 more	GUncertain significance
Select item 2944526	NM_004168.4(SDHA):c.957T>A (p.Ile319=)	SDHA	Single nucleotide variant (synonymous variant)	Paragangliomas 5 +1 more	GLikely benign
Select item 2944502	NM_004168.4(SDHA):c.1384G>A (p.Val462Ile)	SDHA (V462I +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 2944269	NM_004168.4(SDHA):c.368T>G (p.Phe123Cys)	SDHA (F123C)	Single nucleotide variant (missense variant +1 more)	Paragangliomas 5 +1 more	GUncertain significance
Select item 2944196	NM_004168.4(SDHA):c.64-12C>G	SDHA	Single nucleotide variant (intron variant)	Paragangliomas 5 +1 more	GLikely benign
Select item 2944156	NM_004168.4(SDHA):c.1386C>G (p.Val462=)	SDHA	Single nucleotide variant (synonymous variant)	Paragangliomas 5 +1 more	GLikely benign
Select item 2944117	NM_004168.4(SDHA):c.780G>A (p.Gly260=)	SDHA	Single nucleotide variant (synonymous variant)	Paragangliomas 5 +1 more	GLikely benign
Select item 2944031	NM_004168.4(SDHA):c.1033C>G (p.Arg345Gly)	SDHA (R297G +1 more)	Single nucleotide variant (missense variant)	Paragangliomas 5 +2 more	GUncertain significance
Select item 2944019	NM_004168.4(SDHA):c.922A>G (p.Thr308Ala)	SDHA (T260A +1 more)	Single nucleotide variant (missense variant)	Paragangliomas 5 +1 more	GUncertain significance
Select item 2944005	NM_004168.4(SDHA):c.1261-10del	SDHA	Deletion (intron variant)	Paragangliomas 5 +1 more	GLikely benign

<< First< Prev

Page of 10