INMT-MINDY4[gene] - ClinVar

Search results

Items: 99

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CCDC146, CCDC201 +4735 more	Copy number loss	See cases	GPathogenic
Select item 59678	GRCh38/hg38 7p22.3-14.2(chr7:54185-37089712)x3	ABCB5, ACTB +1148 more	Copy number gain	See cases	GPathogenic
Select item 57453	GRCh38/hg38 7p22.3-14.1(chr7:54185-41875885)x3	LOC126860013, LOC126860014 +1298 more	Copy number gain	See cases	GPathogenic
Select item 147609	GRCh38/hg38 7p21.1-14.3(chr7:20561456-32005143)x1	ABCB5, ADCYAP1R1 +387 more	Copy number loss	See cases	GPathogenic
Select item 57469	GRCh38/hg38 7p14.3(chr7:30420933-34560665)x3	ADCYAP1R1, AQP1 +85 more	Copy number gain	See cases	GPathogenic
Select item 150592	GRCh38/hg38 7p14.3(chr7:30621519-31115117)x3	ADCYAP1R1, AQP1 +19 more	Copy number gain	See cases	GUncertain significance
Select item 3109737	NM_006774.5(INMT):c.7G>A (p.Gly3Ser)	INMT, INMT-MINDY4 (G3S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2337804	NM_006774.5(INMT):c.98C>A (p.Pro33His)	INMT, INMT-MINDY4 (P33H)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2351365	NM_006774.5(INMT):c.106G>A (p.Glu36Lys)	INMT, INMT-MINDY4 (E36K)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3109732	NM_006774.5(INMT):c.127G>A (p.Glu43Lys)	INMT, INMT-MINDY4 (E43K)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2557535	NM_006774.5(INMT):c.230C>T (p.Ser77Phe)	INMT, INMT-MINDY4 (S76F +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 729936	NM_006774.5(INMT):c.252C>T (p.Ser84=)	INMT, INMT-MINDY4	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 2368477	NM_006774.5(INMT):c.262G>A (p.Asp88Asn)	INMT, INMT-MINDY4 (D87N +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2611167	NM_006774.5(INMT):c.274G>A (p.Glu92Lys)	INMT, INMT-MINDY4 (E91K +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2616120	NM_006774.5(INMT):c.304C>A (p.Pro102Thr)	INMT, INMT-MINDY4 (P101T +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 722841	NM_006774.5(INMT):c.339C>T (p.Phe113=)	INMT, INMT-MINDY4	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 783491	NM_006774.5(INMT):c.340G>A (p.Ala114Thr)	INMT, INMT-MINDY4 (A114T +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 727581	NM_006774.5(INMT):c.363-7T>A	INMT, INMT-MINDY4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2407343	NM_006774.5(INMT):c.363C>A (p.Ser121Arg)	INMT, INMT-MINDY4 (S120R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 720371	NM_006774.5(INMT):c.367C>T (p.Arg123Ter)	INMT, INMT-MINDY4 (R122* +1 more)	Single nucleotide variant (nonsense)	not provided	GBenign
Select item 2376078	NM_006774.5(INMT):c.370T>C (p.Trp124Arg)	INMT, INMT-MINDY4 (W123R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323025	NM_006774.5(INMT):c.400G>A (p.Ala134Thr)	INMT, INMT-MINDY4 (A133T +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2522456	NM_006774.5(INMT):c.409C>T (p.Arg137Trp)	INMT, INMT-MINDY4 (R137W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109733	NM_006774.5(INMT):c.421T>C (p.Cys141Arg)	INMT, INMT-MINDY4 (C140R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 784108	NM_006774.5(INMT):c.435G>A (p.Leu145=)	INMT, INMT-MINDY4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3109734	NM_006774.5(INMT):c.502T>C (p.Cys168Arg)	INMT, INMT-MINDY4 (C167R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460640	NM_006774.5(INMT):c.530G>A (p.Arg177His)	INMT, INMT-MINDY4 (R176H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 776214	NM_006774.5(INMT):c.567G>A (p.Pro189=)	INMT-MINDY4, INMT	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3109735	NM_006774.5(INMT):c.572G>A (p.Gly191Asp)	INMT, INMT-MINDY4 (G191D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109736	NM_006774.5(INMT):c.598C>T (p.Arg200Trp)	INMT, INMT-MINDY4 (R199W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357285	NM_006774.5(INMT):c.605C>T (p.Pro202Leu)	INMT, INMT-MINDY4 (P201L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268799	NM_006774.5(INMT):c.624G>C (p.Lys208Asn)	INMT, INMT-MINDY4 (K207N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 161650	NM_006774.5(INMT):c.625C>T (p.Arg209Cys)	INMT, INMT-MINDY4 (R209C +1 more)	Single nucleotide variant (missense variant)	Malignant tumor of prostate	GUncertain significance
Select item 2322348	NM_006774.5(INMT):c.657G>T (p.Glu219Asp)	INMT, INMT-MINDY4 (E219D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311692	NM_006774.5(INMT):c.720G>C (p.Gln240His)	INMT, INMT-MINDY4 (Q239H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596286	NM_006774.5(INMT):c.772C>G (p.Arg258Gly)	INMT, INMT-MINDY4 (R257G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377716	NM_006774.5(INMT):c.773G>T (p.Arg258Leu)	INMT, INMT-MINDY4 (R257L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 402980	NM_006774.5(INMT):c.791G>C (p.Ter264Ser)	INMT, INMT-MINDY4	Single nucleotide variant (stop lost)	not specified	GBenign
Select item 3126623	NM_032222.3(MINDY4):c.62A>G (p.Lys21Arg)	INMT-MINDY4, LOC113748388 +1 more (K21R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459292	NM_032222.3(MINDY4):c.100C>T (p.Arg34Cys)	INMT-MINDY4, MINDY4 (R34C)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3126592	NM_032222.3(MINDY4):c.106C>T (p.Arg36Cys)	INMT-MINDY4, MINDY4 (R36C)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3126596	NM_032222.3(MINDY4):c.136G>T (p.Asp46Tyr)	INMT-MINDY4, MINDY4 (D46Y)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2657374	NM_032222.3(MINDY4):c.144A>G (p.Arg48=)	INMT-MINDY4, MINDY4	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 3126609	NM_032222.3(MINDY4):c.190G>A (p.Glu64Lys)	INMT-MINDY4, MINDY4 (E64K)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2547304	NM_032222.3(MINDY4):c.190G>C (p.Glu64Gln)	INMT-MINDY4, MINDY4 (E64Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2470113	NM_032222.3(MINDY4):c.292C>A (p.Leu98Ile)	INMT-MINDY4, MINDY4 (L98I)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2463650	NM_032222.3(MINDY4):c.305A>G (p.Lys102Arg)	INMT-MINDY4, MINDY4 (K102R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3126618	NM_032222.3(MINDY4):c.340A>T (p.Thr114Ser)	INMT-MINDY4, MINDY4 (T114S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3126619	NM_032222.3(MINDY4):c.422A>G (p.His141Arg)	INMT-MINDY4, MINDY4 (H141R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3126620	NM_032222.3(MINDY4):c.476C>T (p.Pro159Leu)	INMT-MINDY4, MINDY4 (P159L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3126621	NM_032222.3(MINDY4):c.545T>C (p.Ile182Thr)	INMT-MINDY4, MINDY4 (I182T)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 3126622	NM_032222.3(MINDY4):c.554T>G (p.Leu185Arg)	INMT-MINDY4, MINDY4 (L185R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3126624	NM_032222.3(MINDY4):c.682T>C (p.Tyr228His)	INMT-MINDY4, MINDY4 (Y228H)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2596884	NM_032222.3(MINDY4):c.683A>G (p.Tyr228Cys)	INMT-MINDY4, MINDY4 (Y228C)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3126625	NM_032222.3(MINDY4):c.686T>C (p.Leu229Pro)	INMT-MINDY4, MINDY4 (L229P)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3126626	NM_032222.3(MINDY4):c.691C>T (p.Arg231Trp)	INMT-MINDY4, MINDY4 (R231W)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3126627	NM_032222.3(MINDY4):c.742G>A (p.Val248Ile)	INMT-MINDY4, MINDY4 (V248I)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3126629	NM_032222.3(MINDY4):c.752T>G (p.Leu251Arg)	INMT-MINDY4, MINDY4 (L251R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3126628	NM_032222.3(MINDY4):c.752T>C (p.Leu251Pro)	INMT-MINDY4, MINDY4 (L251P)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2604657	NM_032222.3(MINDY4):c.757G>T (p.Val253Phe)	INMT-MINDY4, MINDY4 (V253F)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3126630	NM_032222.3(MINDY4):c.785C>G (p.Ser262Trp)	INMT-MINDY4, MINDY4 (S262W)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3126631	NM_032222.3(MINDY4):c.787A>G (p.Ser263Gly)	INMT-MINDY4, MINDY4 (S263G)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3126632	NM_032222.3(MINDY4):c.818G>A (p.Gly273Asp)	INMT-MINDY4, MINDY4 (G273D)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3126633	NM_032222.3(MINDY4):c.929C>G (p.Ser310Cys)	INMT-MINDY4, MINDY4 (S310C)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3126590	NM_032222.3(MINDY4):c.1012A>G (p.Met338Val)	INMT-MINDY4, MINDY4 (M338V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2620963	NM_032222.3(MINDY4):c.1043A>G (p.Lys348Arg)	INMT-MINDY4, MINDY4 (K348R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3126591	NM_032222.3(MINDY4):c.1045C>T (p.Arg349Trp)	INMT-MINDY4, MINDY4 (R349W)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2526288	NM_032222.3(MINDY4):c.1091C>T (p.Pro364Leu)	INMT-MINDY4, MINDY4 (P364L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3126593	NM_032222.3(MINDY4):c.1109G>A (p.Gly370Asp)	INMT-MINDY4, MINDY4 (G370D)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 3126594	NM_032222.3(MINDY4):c.1175C>G (p.Ser392Trp)	INMT-MINDY4, MINDY4 (S392W)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3126595	NM_032222.3(MINDY4):c.1340G>A (p.Gly447Asp)	INMT-MINDY4, MINDY4 (G447D)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2607288	NM_032222.3(MINDY4):c.1421G>A (p.Gly474Glu)	INMT-MINDY4, MINDY4 (G474E)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3126597	NM_032222.3(MINDY4):c.1433C>T (p.Ala478Val)	INMT-MINDY4, MINDY4 (A478V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3126598	NM_032222.3(MINDY4):c.1456C>G (p.Pro486Ala)	INMT-MINDY4, MINDY4 (P486A)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2557106	NM_032222.3(MINDY4):c.1486G>A (p.Val496Ile)	INMT-MINDY4, MINDY4 (V496I)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3126599	NM_032222.3(MINDY4):c.1501G>A (p.Asp501Asn)	INMT-MINDY4, MINDY4 (D501N)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3126600	NM_032222.3(MINDY4):c.1514G>A (p.Arg505Gln)	INMT-MINDY4, MINDY4 (R505Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2476266	NM_032222.3(MINDY4):c.1516G>A (p.Ala506Thr)	INMT-MINDY4, MINDY4 (A506T)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3126601	NM_032222.3(MINDY4):c.1526G>A (p.Arg509Gln)	INMT-MINDY4, MINDY4 (R509Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3126602	NM_032222.3(MINDY4):c.1553C>T (p.Ser518Leu)	INMT-MINDY4, MINDY4 (S518L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3126603	NM_032222.3(MINDY4):c.1610C>A (p.Thr537Lys)	INMT-MINDY4, MINDY4 (T537K)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2467079	NM_032222.3(MINDY4):c.1616C>T (p.Thr539Met)	INMT-MINDY4, MINDY4 (T539M)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2657375	NM_032222.3(MINDY4):c.1617G>A (p.Thr539=)	INMT-MINDY4, MINDY4	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 3126604	NM_032222.3(MINDY4):c.1693T>G (p.Tyr565Asp)	INMT-MINDY4, MINDY4 (Y565D)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3126605	NM_032222.3(MINDY4):c.1750C>T (p.Arg584Cys)	INMT-MINDY4, MINDY4 (R584C)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3126606	NM_032222.3(MINDY4):c.1826T>A (p.Leu609His)	INMT-MINDY4, MINDY4 (L609H)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3126607	NM_032222.3(MINDY4):c.1850A>G (p.Asn617Ser)	INMT-MINDY4, MINDY4 (N617S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2461218	NM_032222.3(MINDY4):c.1859A>G (p.Asn620Ser)	INMT-MINDY4, MINDY4 (N620S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3126608	NM_032222.3(MINDY4):c.1889G>A (p.Gly630Glu)	INMT-MINDY4, MINDY4 (G630E)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3126610	NM_032222.3(MINDY4):c.1912A>G (p.Ile638Val)	INMT-MINDY4, MINDY4 (I638V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2462766	NM_032222.3(MINDY4):c.1930A>G (p.Ile644Val)	INMT-MINDY4, MINDY4 (I644V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 3126611	NM_032222.3(MINDY4):c.1984C>G (p.Leu662Val)	INMT-MINDY4, MINDY4 (L662V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3126612	NM_032222.3(MINDY4):c.2025G>C (p.Glu675Asp)	INMT-MINDY4, MINDY4 (E675D)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3126613	NM_032222.3(MINDY4):c.2048G>T (p.Ser683Ile)	INMT-MINDY4, MINDY4 (S683I)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3126614	NM_032222.3(MINDY4):c.2068C>T (p.Arg690Cys)	INMT-MINDY4, MINDY4 (R690C)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2616477	NM_032222.3(MINDY4):c.2068C>G (p.Arg690Gly)	INMT-MINDY4, MINDY4 (R690G)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3126615	NM_032222.3(MINDY4):c.2069G>A (p.Arg690His)	INMT-MINDY4, MINDY4 (R690H)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3126616	NM_032222.3(MINDY4):c.2161C>G (p.Gln721Glu)	INMT-MINDY4, MINDY4 (Q721E)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3126617	NM_032222.3(MINDY4):c.2182G>C (p.Asp728His)	INMT-MINDY4, MINDY4 (D728H)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance

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Items: 99