ClinVar for Gene (Select 9110) - ClinVar

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Links from Gene

Items: 75

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3296708	NM_001378067.1(MTMR4):c.2092A>G (p.Lys698Glu)	MTMR4 (K684E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3296707	NM_001378067.1(MTMR4):c.2555C>T (p.Ser852Leu)	MTMR4 (S838L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3296706	NM_001378067.1(MTMR4):c.2434A>G (p.Met812Val)	MTMR4 (M812V +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3296705	NM_001378067.1(MTMR4):c.3121C>A (p.Gln1041Lys)	MTMR4 (Q1027K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3296704	NM_001378067.1(MTMR4):c.2420C>G (p.Ala807Gly)	MTMR4 (A807G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3296703	NM_001378067.1(MTMR4):c.2932T>C (p.Cys978Arg)	MTMR4 (C964R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242218	Single allele	KIF18B, LPO +196 more	Deletion	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 3242217	GRCh37/hg19 17q12-22(chr17:41196270-41277589)	SLC4A1, DCAKD +422 more	Copy number loss	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 3216428	NM_001378067.1(MTMR4):c.101C>G (p.Pro34Arg)	MTMR4 (P34R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216421	NM_001378067.1(MTMR4):c.555G>C (p.Gln185His)	MTMR4 (Q171H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216416	NM_001378067.1(MTMR4):c.409A>C (p.Lys137Gln)	MTMR4 (K127Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216413	NM_001378067.1(MTMR4):c.3307A>G (p.Ser1103Gly)	MTMR4 (S1103G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216407	NM_001378067.1(MTMR4):c.3233T>C (p.Met1078Thr)	MTMR4 (M1064T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216405	NM_001378067.1(MTMR4):c.3200G>A (p.Arg1067His)	MTMR4 (R1053H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216403	NM_001378067.1(MTMR4):c.3173G>A (p.Arg1058His)	MTMR4 (R1058H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216399	NM_001378067.1(MTMR4):c.3172C>T (p.Arg1058Cys)	MTMR4 (R1044C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216384	NM_001378067.1(MTMR4):c.3011T>A (p.Val1004Asp)	MTMR4 (V1004D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216381	NM_001378067.1(MTMR4):c.2800G>T (p.Gly934Trp)	MTMR4 (G920W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216360	NM_001378067.1(MTMR4):c.2423A>T (p.Gln808Leu)	MTMR4 (Q808L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216354	NM_001378067.1(MTMR4):c.2359G>C (p.Asp787His)	MTMR4 (D777H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216348	NM_001378067.1(MTMR4):c.2174G>A (p.Arg725Gln)	MTMR4 (R715Q +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3216341	NM_001378067.1(MTMR4):c.1952G>T (p.Cys651Phe)	MTMR4 (C641F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216336	NM_001378067.1(MTMR4):c.1810C>T (p.Pro604Ser)	MTMR4 (P604S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216333	NM_001378067.1(MTMR4):c.1723C>T (p.Arg575Trp)	MTMR4 (R565W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216328	NM_001378067.1(MTMR4):c.1619G>A (p.Arg540Gln)	MTMR4 (R526Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216327	NM_001378067.1(MTMR4):c.1520C>T (p.Ala507Val)	MTMR4 (A507V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616491	NM_001378067.1(MTMR4):c.1120T>C (p.Cys374Arg)	MTMR4 (C374R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612156	NM_001378067.1(MTMR4):c.2539C>T (p.Leu847Phe)	MTMR4 (L837F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610582	NM_001378067.1(MTMR4):c.199A>C (p.Ile67Leu)	MTMR4 (I67L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593198	NM_001378067.1(MTMR4):c.2730G>C (p.Gln910His)	MTMR4 (Q910H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592838	NM_001378067.1(MTMR4):c.100C>G (p.Pro34Ala)	MTMR4 (P20A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559629	NM_001378067.1(MTMR4):c.3028G>A (p.Val1010Ile)	MTMR4 (V1000I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557444	NM_001378067.1(MTMR4):c.1152G>C (p.Leu384Phe)	MTMR4 (L374F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554087	NM_001378067.1(MTMR4):c.2939G>A (p.Ser980Asn)	MTMR4 (S970N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521490	NM_001378067.1(MTMR4):c.3164G>A (p.Arg1055Gln)	MTMR4 (R1041Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518580	NM_001378067.1(MTMR4):c.715C>T (p.Arg239Cys)	MTMR4 (R225C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513258	NM_001378067.1(MTMR4):c.100C>A (p.Pro34Thr)	MTMR4 (P20T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485726	NM_001378067.1(MTMR4):c.2702T>G (p.Leu901Trp)	MTMR4 (L891W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461298	NM_001378067.1(MTMR4):c.2024C>G (p.Ser675Cys)	MTMR4 (S661C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458847	NM_001378067.1(MTMR4):c.1057G>A (p.Val353Met)	MTMR4 (V353M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407139	NM_001378067.1(MTMR4):c.713T>C (p.Leu238Ser)	MTMR4 (L224S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401512	NM_001378067.1(MTMR4):c.436T>C (p.Tyr146His)	MTMR4 (Y132H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400766	NM_001378067.1(MTMR4):c.1858C>T (p.Pro620Ser)	MTMR4 (P606S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399696	NM_001378067.1(MTMR4):c.1604G>A (p.Arg535His)	MTMR4 (R521H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398255	NM_001378067.1(MTMR4):c.3370C>T (p.Arg1124Cys)	MTMR4 (R1110C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379691	NM_001378067.1(MTMR4):c.2270G>C (p.Arg757Thr)	MTMR4 (R747T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374779	NM_001378067.1(MTMR4):c.1697T>G (p.Met566Arg)	MTMR4 (M552R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357877	NM_001378067.1(MTMR4):c.2870G>A (p.Arg957Gln)	MTMR4 (R947Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357237	NM_001378067.1(MTMR4):c.2696T>C (p.Leu899Ser)	MTMR4 (L885S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344054	NM_001378067.1(MTMR4):c.524C>T (p.Ala175Val)	MTMR4 (A161V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320911	NM_001378067.1(MTMR4):c.2501C>T (p.Ala834Val)	MTMR4 (A824V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289505	NM_001378067.1(MTMR4):c.3289G>A (p.Asp1097Asn)	MTMR4 (D1083N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288624	NM_001378067.1(MTMR4):c.1618C>T (p.Arg540Trp)	MTMR4 (R530W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255772	NM_001378067.1(MTMR4):c.3078T>G (p.Asp1026Glu)	MTMR4 (D1026E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251775	NM_001378067.1(MTMR4):c.1661A>C (p.Asn554Thr)	MTMR4 (N540T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242336	NM_001378067.1(MTMR4):c.2693C>T (p.Pro898Leu)	MTMR4 (P884L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242335	NM_001378067.1(MTMR4):c.2519T>C (p.Leu840Pro)	MTMR4 (L830P +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2237421	NM_001378067.1(MTMR4):c.101C>A (p.Pro34His)	MTMR4 (P34H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231448	NM_001378067.1(MTMR4):c.2365G>A (p.Val789Ile)	MTMR4 (V775I +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1710927	GRCh37/hg19 17q22(chr17:55043662-56728123)x1	LPO, MKS1 +21 more	Copy number loss	See cases	GPathogenic
Select item 1412084	NC_000017.10:g.(?_54671585)_(59938900_?)dup	AKAP1, APPBP2 +54 more	Duplication	Meckel-Gruber syndrome +1 more	GUncertain significance
Select item 1042799	NC_000017.10:g.(?_56432304)_(56811583_?)dup	C17orf47, HSF5 +5 more	Duplication	Fanconi anemia complementation group O	GUncertain significance
Select item 779459	NM_001378067.1(MTMR4):c.426T>C (p.Phe142=)	MTMR4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 779458	NM_001378067.1(MTMR4):c.690T>C (p.Ile230=)	MTMR4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 779457	NM_001378067.1(MTMR4):c.3081A>T (p.Gly1027=)	MTMR4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +1143 more	Copy number gain	See cases	GPathogenic
Select item 395646	GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3	AANAT, AATK +458 more	Copy number gain	See cases	GPathogenic
Select item 394267	GRCh37/hg19 17q22(chr17:52189051-57477162)x3	AKAP1, ANKFN1 +42 more	Copy number gain	See cases	GPathogenic
Select item 394158	GRCh37/hg19 17q21.33-23.2(chr17:49076980-58740945)x3	AKAP1, ANKFN1 +65 more	Copy number gain	See cases	GPathogenic
Select item 253549	GRCh37/hg19 17q22-23.3(chr17:56321134-62080001)x3	TANC2, DDX42 +66 more	Copy number gain	See cases	GPathogenic
Select item 253345	GRCh37/hg19 17q22(chr17:55916829-56770618)x1	MKS1, DYNLL2 +19 more	Copy number loss	See cases	GLikely pathogenic
Select item 151500	GRCh38/hg38 17q22-23.1(chr17:57418806-59735464)x1	C17orf47, CCDC182 +168 more	Copy number loss	See cases	GPathogenic
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	AARSD1, AATF +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC126862582, LOC126862583 +1753 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 75