72[geneid] - ClinVar

Search results

Items: 95

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	LOC129934199, LOC129934200 +2457 more	Copy number gain	See cases	GBenign
Select item 146814	GRCh38/hg38 2p16.1-11.2(chr2:58279519-83586962)x3	C2orf74, CCT4 +768 more	Copy number gain	See cases	GPathogenic
Select item 1188998	NM_001615.4(ACTG2):c.-36-12G>C	ACTG2	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1188856	NM_001615.4(ACTG2):c.-6C>T	ACTG2	Single nucleotide variant (5 prime UTR variant)	Megacystis-microcolon-intestinal hypoperistalsis syndrome 5 +2 more	GBenign
Select item 3062129	NM_001615.4(ACTG2):c.28G>A (p.Val10Met)	ACTG2 (V10M)	Single nucleotide variant (missense variant)	Visceral myopathy 1	GLikely pathogenic
Select item 495146	NM_001615.4(ACTG2):c.67G>A (p.Ala23Thr)	ACTG2 (A23T)	Single nucleotide variant (missense variant)	Visceral myopathy 1	GUncertain significance
Select item 217521	NM_001615.4(ACTG2):c.113G>A (p.Arg38His)	ACTG2 (R38H)	Single nucleotide variant (missense variant)	Chronic intestinal pseudoobstruction	GPathogenic
Select item 1703035	NM_001615.4(ACTG2):c.116C>G (p.Pro39Arg)	ACTG2 (P39R)	Single nucleotide variant (missense variant)	Megacystis-microcolon-intestinal hypoperistalsis syndrome 5	GLikely pathogenic
Select item 694268	NM_001615.4(ACTG2):c.116C>T (p.Pro39Leu)	ACTG2 (P39L)	Single nucleotide variant (missense variant)	Visceral myopathy 1	GPathogenic
Select item 132799	NM_001615.4(ACTG2):c.118C>T (p.Arg40Cys)	ACTG2 (R40C)	Single nucleotide variant (missense variant)	ACTG2-related condition +2 more	GPathogenic/Likely pathogenic
Select item 132802	NM_001615.4(ACTG2):c.119G>A (p.Arg40His)	ACTG2 (R40H)	Single nucleotide variant (missense variant)	Visceral myopathy 1 +3 more	GPathogenic/Likely pathogenic
Select item 973100	NM_001615.4(ACTG2):c.123C>A (p.His41Gln)	ACTG2 (H41Q)	Single nucleotide variant (missense variant)	Visceral myopathy 1	GUncertain significance
Select item 373545	NM_001615.4(ACTG2):c.126+5G>A	ACTG2	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 2572538	NM_001615.4(ACTG2):c.131T>A (p.Val44Glu)	ACTG2 (V44E)	Single nucleotide variant (missense variant +1 more)	Megacystis-microcolon-intestinal hypoperistalsis syndrome 5	GUncertain significance
Select item 218309	NM_001615.4(ACTG2):c.134T>C (p.Met45Thr)	ACTG2 (M45T)	Single nucleotide variant (missense variant +1 more)	Visceral myopathy 1	GPathogenic
Select item 2500567	NM_001615.4(ACTG2):c.137T>C (p.Val46Ala)	ACTG2 (V46A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1333874	NM_001615.4(ACTG2):c.178C>G (p.Gln60Glu)	ACTG2 (Q60E)	Single nucleotide variant (missense variant +1 more)	Visceral myopathy 1	GUncertain significance
Select item 591920	NM_001615.4(ACTG2):c.183C>G (p.Ser61Arg)	ACTG2 (S61R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 218310	NM_001615.4(ACTG2):c.187C>G (p.Arg63Gly)	ACTG2 (R63G)	Single nucleotide variant (missense variant +1 more)	Visceral myopathy 1	GPathogenic
Select item 1709289	NM_001615.4(ACTG2):c.188G>T (p.Arg63Leu)	ACTG2 (R63L)	Single nucleotide variant (missense variant +1 more)	Megacystis-microcolon-intestinal hypoperistalsis syndrome 5	GLikely pathogenic
Select item 694269	NM_001615.4(ACTG2):c.188G>A (p.Arg63Gln)	ACTG2 (R63Q)	Single nucleotide variant (missense variant +1 more)	Visceral myopathy 1	GPathogenic
Select item 387322	NM_001615.4(ACTG2):c.217G>C (p.Glu73Gln)	ACTG2 (E73Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3030932	NM_001615.4(ACTG2):c.222C>T (p.His74=)	ACTG2	Single nucleotide variant (synonymous variant +1 more)	ACTG2-related condition	GLikely benign
Select item 712354	NM_001615.4(ACTG2):c.246C>T (p.Asp82=)	ACTG2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 694318	NM_001615.4(ACTG2):c.255+210C>G	ACTG2	Single nucleotide variant (intron variant)	Visceral myopathy 1	GUncertain significance
Select item 218311	NM_001615.4(ACTG2):c.255+210C>A	ACTG2	Single nucleotide variant (intron variant)	Visceral myopathy 1	GPathogenic
Select item 1188857	NM_001615.4(ACTG2):c.256-3T>C	ACTG2	Single nucleotide variant (intron variant)	Megacystis-microcolon-intestinal hypoperistalsis syndrome 5 +1 more	GBenign
Select item 666312	NM_001615.4(ACTG2):c.337C>G (p.Pro113Ala)	ACTG2 (P70A +1 more)	Single nucleotide variant (missense variant)	Visceral myopathy 1	GLikely pathogenic
Select item 384793	NM_001615.4(ACTG2):c.347A>G (p.Asn116Ser)	ACTG2 (N116S +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2438843	NM_001615.4(ACTG2):c.348C>G (p.Asn116Lys)	ACTG2 (N116K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 807365	NM_001615.4(ACTG2):c.348C>A (p.Asn116Lys)	ACTG2 (N116K +1 more)	Single nucleotide variant (missense variant)	Visceral myopathy 1	GLikely pathogenic
Select item 801724	NM_001615.4(ACTG2):c.354A>G (p.Glu118=)	ACTG2	Single nucleotide variant (synonymous variant)	Visceral myopathy 1 +1 more	GBenign
Select item 2664268	NM_001615.4(ACTG2):c.359T>C (p.Met120Thr)	ACTG2 (M120T +1 more)	Single nucleotide variant (missense variant)	Megacystis-microcolon-intestinal hypoperistalsis syndrome 5	GUncertain significance
Select item 132805	NM_001615.4(ACTG2):c.400T>A (p.Tyr134Asn)	ACTG2 (Y134N +1 more)	Single nucleotide variant (missense variant)	Visceral myopathy 1	GPathogenic
Select item 1526399	NM_001615.4(ACTG2):c.439G>C (p.Gly147Arg)	ACTG2 (G104R +1 more)	Single nucleotide variant (missense variant)	Megacystis, microcolon, hypoperistalsis syndrome	GLikely pathogenic
Select item 1177291	NM_001615.4(ACTG2):c.442C>T (p.Arg148Cys)	ACTG2 (R105C +1 more)	Single nucleotide variant (missense variant)	Intestinal obstruction	GLikely pathogenic
Select item 132797	NM_001615.4(ACTG2):c.442C>A (p.Arg148Ser)	ACTG2 (R148S +1 more)	Single nucleotide variant (missense variant)	Chronic intestinal pseudoobstruction +1 more	GPathogenic
Select item 180620	NM_001615.4(ACTG2):c.443G>T (p.Arg148Leu)	ACTG2 (R148L +1 more)	Single nucleotide variant (missense variant)	Visceral myopathy 1	GPathogenic/Likely pathogenic
Select item 973101	NM_001615.4(ACTG2):c.446C>G (p.Thr149Arg)	ACTG2 (T106R +1 more)	Single nucleotide variant (missense variant)	Visceral myopathy 1	GUncertain significance
Select item 791858	NM_001615.4(ACTG2):c.456C>T (p.Ile152=)	ACTG2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 684544	NM_001615.4(ACTG2):c.478G>A (p.Val160Ile)	ACTG2 (V160I +1 more)	Single nucleotide variant (missense variant)	ACTG2-Related Disorder	Gnot provided
Select item 3024243	NM_001615.4(ACTG2):c.532C>A (p.Arg178Ser)	ACTG2 (R135S +1 more)	Single nucleotide variant (missense variant)	Visceral myopathy 1 +1 more	GPathogenic
Select item 132800	NM_001615.4(ACTG2):c.532C>T (p.Arg178Cys)	ACTG2 (R178C +1 more)	Single nucleotide variant (missense variant)	ACTG2-related condition +3 more	GPathogenic
Select item 132801	NM_001615.4(ACTG2):c.533G>A (p.Arg178His)	ACTG2 (R178H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GPathogenic
Select item 132798	NM_001615.4(ACTG2):c.533G>T (p.Arg178Leu)	ACTG2 (R178L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 379898	NM_001615.4(ACTG2):c.565T>C (p.Tyr189His)	ACTG2 (Y189H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 379697	NM_001615.4(ACTG2):c.584C>T (p.Thr195Ile)	ACTG2 (T195I +1 more)	Single nucleotide variant (missense variant)	ACTG2-related condition +1 more	GConflicting classifications of pathogenicity
Select item 973102	NM_001615.4(ACTG2):c.588G>C (p.Glu196Asp)	ACTG2 (E196D +1 more)	Single nucleotide variant (missense variant)	Visceral myopathy 1	GLikely pathogenic
Select item 427095	NM_001615.4(ACTG2):c.588G>T (p.Glu196Asp)	ACTG2 (E196D +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 872896	NM_001615.4(ACTG2):c.589_613+163del	ACTG2	Deletion (splice donor variant)	Visceral myopathy 1	GLikely pathogenic
Select item 1339551	NM_001615.4(ACTG2):c.590G>C (p.Arg197Thr)	ACTG2 (R154T +1 more)	Single nucleotide variant (missense variant)	Visceral myopathy 1	GLikely pathogenic
Select item 1803217	NM_001615.4(ACTG2):c.593G>T (p.Gly198Val)	ACTG2 (G155V +1 more)	Single nucleotide variant (missense variant)	Megacystis-microcolon-intestinal hypoperistalsis syndrome 5	GLikely pathogenic
Select item 218312	NM_001615.4(ACTG2):c.593G>A (p.Gly198Asp)	ACTG2 (G198D +1 more)	Single nucleotide variant (missense variant)	Visceral myopathy 1	GPathogenic
Select item 369682	NM_001615.4(ACTG2):c.613G>A (p.Ala205Thr)	ACTG2 (A205T +1 more)	Single nucleotide variant (missense variant)	Visceral myopathy 1	GPathogenic
Select item 3056757	NM_001615.4(ACTG2):c.613+8G>T	ACTG2	Single nucleotide variant (intron variant)	ACTG2-related condition	GBenign
Select item 1708919	NM_001615.4(ACTG2):c.614C>T (p.Ala205Val)	ACTG2 (A162V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 992909	NM_001615.4(ACTG2):c.614C>A (p.Ala205Asp)	ACTG2 (A162D +1 more)	Single nucleotide variant (missense variant)	Visceral myopathy 1	GUncertain significance
Select item 2651032	NM_001615.4(ACTG2):c.615T>G (p.Ala205=)	ACTG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2438844	NM_001615.4(ACTG2):c.616G>A (p.Glu206Lys)	ACTG2 (E163K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1307890	NM_001615.4(ACTG2):c.629T>C (p.Val210Ala)	ACTG2 (V167A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1804921	NM_001615.4(ACTG2):c.632G>T (p.Arg211Leu)	ACTG2 (R168L +1 more)	Single nucleotide variant (missense variant)	Visceral myopathy 1	GPathogenic
Select item 495145	NM_001615.4(ACTG2):c.632G>A (p.Arg211Gln)	ACTG2 (R211Q +1 more)	Single nucleotide variant (missense variant)	ACTG2-related condition +2 more	GConflicting classifications of pathogenicity
Select item 2571828	NM_001615.4(ACTG2):c.637A>G (p.Ile213Val)	ACTG2 (I170V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2255405	NM_001615.4(ACTG2):c.701C>T (p.Ser234Phe)	ACTG2 (S234F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 132803	NM_001615.4(ACTG2):c.769C>T (p.Arg257Cys)	ACTG2 (R257C +1 more)	Single nucleotide variant (missense variant)	Megacystis-microcolon-intestinal hypoperistalsis syndrome 5 +4 more	GPathogenic
Select item 208792	NM_001615.4(ACTG2):c.770G>A (p.Arg257His)	ACTG2 (R257H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GPathogenic
Select item 737827	NM_001615.4(ACTG2):c.792G>A (p.Gln264=)	ACTG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1810618	NM_001615.4(ACTG2):c.805+4A>G	ACTG2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 156554	NM_001615.4(ACTG2):c.806_807delinsAA (p.Gly269Glu)	ACTG2 (G269E +1 more)	Indel (missense variant)	Visceral myopathy 1	GPathogenic
Select item 1307078	NM_001615.4(ACTG2):c.811G>A (p.Glu271Lys)	ACTG2 (E228K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1047916	NM_001615.4(ACTG2):c.968C>T (p.Pro323Leu)	ACTG2 (P280L +1 more)	Single nucleotide variant (missense variant)	Chronic intestinal pseudoobstruction	GLikely pathogenic
Select item 712048	NM_001615.4(ACTG2):c.969C>T (p.Pro323=)	ACTG2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1339480	NM_001615.4(ACTG2):c.981G>T (p.Lys327Asn)	ACTG2 (K284N +1 more)	Single nucleotide variant (missense variant)	Intestinal pseudo-obstruction	GUncertain significance
Select item 2664269	NM_001615.4(ACTG2):c.985A>C (p.Lys329Gln)	ACTG2 (K286Q +1 more)	Single nucleotide variant (missense variant)	Megacystis-microcolon-intestinal hypoperistalsis syndrome 5	GUncertain significance
Select item 1432699	NM_001615.4(ACTG2):c.1003G>A (p.Glu335Lys)	ACTG2 (E292K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 973103	NM_001615.4(ACTG2):c.1006C>T (p.Arg336Trp)	ACTG2 (R336W +1 more)	Single nucleotide variant (missense variant)	Visceral myopathy 1	GUncertain significance
Select item 3065144	NM_001615.4(ACTG2):c.1007G>A (p.Arg336Gln)	ACTG2 (R293Q +1 more)	Single nucleotide variant (missense variant)	Megacystis-microcolon-intestinal hypoperistalsis syndrome 5	GLikely pathogenic
Select item 1032761	NM_001615.4(ACTG2):c.1031G>C (p.Gly344Ala)	ACTG2 (G301A +1 more)	Single nucleotide variant (missense variant)	Visceral myopathy 1	GUncertain significance
Select item 451698	NM_001615.4(ACTG2):c.1034C>G (p.Ser345Cys)	ACTG2 (S345C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1307098	NM_001615.4(ACTG2):c.1037T>C (p.Ile346Thr)	ACTG2 (I303T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2580447	NM_001615.4(ACTG2):c.1068G>T (p.Met356Ile)	ACTG2 (M313I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2259560	NM_001615.4(ACTG2):c.1121A>G (p.Lys374Arg)	ACTG2 (K331R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3038553	NM_001615.4(ACTG2):c.*8A>G	ACTG2	Single nucleotide variant (3 prime UTR variant)	ACTG2-related condition	GBenign
Select item 3062659	GRCh37/hg19 2p13.3-12(chr2:71076472-76368354)x1	ACTG2, ALMS1 +60 more	Copy number loss	not specified	GLikely pathogenic
Select item 2498869	GRCh37/hg19 2p13.1-12(chr2:73716761-75347894)x1	ACTG2, ALMS1 +35 more	Copy number loss	not provided	GUncertain significance
Select item 2427025	NC_000002.11:g.(?_69240632)_(74779761_?)dup	DGUOK, EMX1 +72 more	Duplication	not provided	GUncertain significance
Select item 2425561	NC_000002.11:g.(?_72359356)_(74779761_?)del	INO80B, LBX2 +42 more	Deletion	not provided	GPathogenic
Select item 2424629	NC_000002.11:g.(?_71004499)_(74779761_?)del	ACTG2, ALMS1 +55 more	Deletion	Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency	GPathogenic
Select item 1708190	GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1	ACTG2, ACTR1B +529 more	Copy number loss	See cases	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 688704	GRCh37/hg19 2p13.1(chr2:74139260-74249457)x3	ACTG2, DGUOK	Copy number gain	not provided	GUncertain significance
Select item 560065	Single allele	AAK1, ACTG2 +127 more	Duplication	not provided	GPathogenic
Select item 524189	Single allele	ACMSD, C2orf27A +486 more	Deletion	not provided	GLikely pathogenic
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	DCAF17, DCDC2C +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	AAK1, AAMP +1214 more	Copy number gain	See cases	GPathogenic

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Items: 95