MTFR1[gene] - ClinVar

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Items: 71

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC126860438, LOC126860439 +3663 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	AARD, ABRA +3663 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC105379224, LOC105379230 +3657 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC129999966, LOC129999967 +3111 more	Copy number gain	See cases	GPathogenic
Select item 144238	GRCh38/hg38 8q11.1-13.2(chr8:46031334-69303787)x3	ADHFE1, ALKAL1 +491 more	Copy number gain	See cases	GPathogenic
Select item 150723	GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3	LOC126860489, LOC126860490 +1963 more	Copy number gain	See cases	GPathogenic
Select item 59787	GRCh38/hg38 8q12.1-21.13(chr8:57361243-79170078)x3	ADHFE1, ARFGEF1 +421 more	Copy number gain	See cases	GPathogenic
Select item 145461	GRCh38/hg38 8q12.1-13.1(chr8:60519222-66659025)x3	ADHFE1, ARMC1 +150 more	Copy number gain	See cases	GPathogenic
Select item 59788	GRCh38/hg38 8q12.3-21.13(chr8:61691800-82537696)x3	ADHFE1, ARFGEF1 +417 more	Copy number gain	See cases	GPathogenic
Select item 60364	GRCh38/hg38 8q12.3-21.11(chr8:62230636-73227786)x1	ADHFE1, ARFGEF1 +228 more	Copy number loss	See cases	GPathogenic
Select item 3296607	NM_014637.4(MTFR1):c.19C>T (p.Arg7Cys)	MTFR1 (R7C)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2658631	NM_014637.4(MTFR1):c.42A>G (p.Gln14=)	MTFR1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2215937	NM_014637.4(MTFR1):c.65C>T (p.Ser22Leu)	MTFR1 (S22L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409557	NM_014637.4(MTFR1):c.79A>G (p.Arg27Gly)	MTFR1 (R27G)	Single nucleotide variant (missense variant +3 more)	not specified	GLikely benign
Select item 2292559	NM_014637.4(MTFR1):c.101G>A (p.Arg34Gln)	MTFR1 (R34Q)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3296606	NM_014637.4(MTFR1):c.198C>G (p.Ser66Arg)	MTFR1 (S53R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2543758	NM_014637.4(MTFR1):c.224C>A (p.Ser75Tyr)	MTFR1 (S75Y +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 91981	NM_014637.4(MTFR1):c.244G>T (p.Val82Leu)	MTFR1 (V82L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3214705	NM_014637.4(MTFR1):c.397C>T (p.Pro133Ser)	MTFR1 (P120S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2411493	NM_014637.4(MTFR1):c.436G>A (p.Ala146Thr)	MTFR1 (A133T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214707	NM_014637.4(MTFR1):c.494A>C (p.Gln165Pro)	MTFR1 (Q165P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2379319	NM_014637.4(MTFR1):c.497A>G (p.Glu166Gly)	MTFR1 (E166G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354371	NM_014637.4(MTFR1):c.549A>G (p.Ile183Met)	MTFR1 (I150M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3296608	NM_014637.4(MTFR1):c.575C>T (p.Pro192Leu)	MTFR1 (P159L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2616956	NM_014637.4(MTFR1):c.628C>G (p.Leu210Val)	MTFR1 (L177V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2455407	NM_014637.4(MTFR1):c.641G>A (p.Arg214Gln)	MTFR1 (R201Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2343624	NM_014637.4(MTFR1):c.644G>C (p.Arg215Thr)	MTFR1 (R182T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308106	NM_014637.4(MTFR1):c.746A>G (p.Lys249Arg)	MTFR1 (K236R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241030	NM_014637.4(MTFR1):c.797A>G (p.Asp266Gly)	MTFR1 (D253G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214711	NM_014637.4(MTFR1):c.851A>G (p.Tyr284Cys)	MTFR1 (Y271C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2338227	NM_014637.4(MTFR1):c.916A>C (p.Thr306Pro)	MTFR1 (T293P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471435	NM_014637.4(MTFR1):c.933+94G>C	MTFR1 (V343L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2455397	NM_014637.4(MTFR1):c.933+98G>T	MTFR1 (S344I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2546213	NM_014637.4(MTFR1):c.933+107G>A	MTFR1 (G347E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210777	NM_001242318.3(PDE7A):c.1442T>C (p.Leu481Ser)	MTFR1, PDE7A (L455S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2354779	NM_001242318.3(PDE7A):c.1427C>T (p.Pro476Leu)	MTFR1, PDE7A (P476L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210776	NM_001242318.3(PDE7A):c.1399G>A (p.Ala467Thr)	MTFR1, PDE7A (A441T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2316764	NM_001242318.3(PDE7A):c.1397C>A (p.Ala466Asp)	MTFR1, PDE7A (A440D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543428	NM_001242318.3(PDE7A):c.1276A>G (p.Thr426Ala)	MTFR1, PDE7A (T400A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2540598	NM_001242318.3(PDE7A):c.1267C>A (p.Pro423Thr)	MTFR1, PDE7A (P397T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2273974	NM_001242318.3(PDE7A):c.1267C>G (p.Pro423Ala)	MTFR1, PDE7A (P423A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2547433	NM_001242318.3(PDE7A):c.1214A>G (p.His405Arg)	MTFR1, PDE7A (H379R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2385152	NM_001242318.3(PDE7A):c.1213C>T (p.His405Tyr)	MTFR1, PDE7A (H379Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535613	NM_001242318.3(PDE7A):c.1211G>A (p.Arg404His)	MTFR1, PDE7A (R378H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2344841	NM_001242318.3(PDE7A):c.1210C>T (p.Arg404Cys)	MTFR1, PDE7A (R378C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467209	NM_001242318.3(PDE7A):c.1199C>T (p.Pro400Leu)	MTFR1, PDE7A (P374L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2408418	NM_001242318.3(PDE7A):c.1180T>A (p.Tyr394Asn)	MTFR1, PDE7A (Y368N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262570	NM_001242318.3(PDE7A):c.1069G>A (p.Ala357Thr)	MTFR1, PDE7A (A331T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210779	NM_001242318.3(PDE7A):c.928A>G (p.Met310Val)	MTFR1, PDE7A (M310V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210778	NM_001242318.3(PDE7A):c.628C>T (p.Pro210Ser)	MTFR1, PDE7A (P184S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2213973	NM_001242318.3(PDE7A):c.601A>G (p.Ile201Val)	MTFR1, PDE7A (I175V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315634	NM_001242318.3(PDE7A):c.521C>T (p.Thr174Ile)	MTFR1, PDE7A (T148I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477603	NM_001242318.3(PDE7A):c.469G>C (p.Asp157His)	MTFR1, PDE7A (D131H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2319617	NM_001242318.3(PDE7A):c.358T>A (p.Ser120Thr)	MTFR1, PDE7A (S120T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063025	GRCh37/hg19 8p21.2-q21.3(chr8:27024288-89410121)x3	PREX2, PRKDC +240 more	Copy number gain	not specified	GPathogenic
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 1809323	GRCh37/hg19 8q12.3-13.1(chr8:64049070-66671663)x1	ARMC1, BHLHE22 +4 more	Copy number loss	not provided	GUncertain significance
Select item 1703544	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)	AARD, ABRA +665 more	Copy number gain	Polydactyly	GPathogenic
Select item 1527436	GRCh37/hg19 8q12.3-13.2(chr8:65194424-68570319)	ADHFE1, ARFGEF1 +23 more	Copy number loss	not specified	GPathogenic
Select item 1340821	GRCh37/hg19 8q13.1-13.2(chr8:66045954-69807260)x1	ADHFE1, ARFGEF1 +23 more	Copy number loss	not provided	GPathogenic
Select item 687977	GRCh37/hg19 8q13.1(chr8:66320808-66641126)x3	ARMC1, MTFR1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 687787	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	BAALC, CNOT7 +665 more	Copy number gain	not provided	GPathogenic
Select item 687493	GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3	HSF1, HTRA4 +474 more	Copy number gain	not provided	GPathogenic
Select item 686117	GRCh37/hg19 8q12.3-13.1(chr8:65280508-67782846)x1	ADHFE1, ARMC1 +14 more	Copy number loss	not provided	GPathogenic
Select item 563478	GRCh37/hg19 8q13.1(chr8:66403054-66705320)x3	MTFR1, PDE7A +1 more	Copy number gain	not provided	GUncertain significance
Select item 443619	GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3	AARD, ABRA +593 more	Copy number gain	See cases	GPathogenic
Select item 442201	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3	AARD, ABRA +665 more	Copy number gain	See cases	GPathogenic
Select item 442200	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)	FGF20, FGFR1 +665 more	Copy number gain	See cases	GPathogenic
Select item 394884	GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3	SCRT1, SCX +665 more	Copy number gain	See cases	GPathogenic

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Items: 71