MTFR1[gene] - ClinVar

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

Search results

Items: 68

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	AARD, ABRA +3658 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	LOC129999937, LOC129999938 +3658 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	PKHD1L1, PKIA +3656 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC126860501, LOC126860502 +3652 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	MIR7705, MIR7848 +3656 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC130000156, LOC130000157 +3106 more	Copy number gain	See cases	GPathogenic
Select item 144238	GRCh38/hg38 8q11.1-13.2(chr8:46031334-69303787)x3	ADHFE1, ALKAL1 +489 more	Copy number gain	See cases	GPathogenic
Select item 150723	GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3	LINC02894, LINC02906 +1960 more	Copy number gain	See cases	GPathogenic
Select item 59787	GRCh38/hg38 8q12.1-21.13(chr8:57361243-79170078)x3	LOC130000438, LOC130000439 +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 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 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 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	ADAM18, ADAM2 +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	MICU3, MIR1234 +665 more	Copy number gain	not provided	GPathogenic
Select item 687493	GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3	VPS13B, VPS28 +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	KCNQ3, KCNS2 +593 more	Copy number gain	See cases	GPathogenic
Select item 442201	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3	PPDPFL, PPP1R16A +665 more	Copy number gain	See cases	GPathogenic
Select item 442200	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)	AARD, ABRA +665 more	Copy number gain	See cases	GPathogenic
Select item 394884	GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3	CLDN23, LONRF1 +665 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 68