LIMCH1[gene] - ClinVar

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Items: 68

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2579172	GRCh38/hg38 4p16.3-11(chr4:1-49062177)x3	LOC123477714, LOC123477715 +1267 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 148186	GRCh38/hg38 4p16.3-12(chr4:36424-47491595)x3	ABLIM2, ACOX3 +1209 more	Copy number gain	See cases	GPathogenic
Select item 2579174	GRCh38/hg38 4p16.3-q12(chr4:85624-57073230)x3	LOC129992561, LOC129992562 +1409 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2579173	GRCh38/hg38 4p16.3-13(chr4:2904667-42963232)x3	LOC129992261, LOC129992262 +962 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 148977	GRCh38/hg38 4p14-12(chr4:39444586-46117146)x3	APBB2, ATP8A1 +160 more	Copy number gain	See cases	GUncertain significance
Select item 145612	GRCh38/hg38 4p14-11(chr4:40496476-49579850)x3	APBB2, ATP10D +171 more	Copy number gain	See cases	GPathogenic
Select item 2296049	NM_014988.5(LIMCH1):c.59C>G (p.Pro20Arg)	LIMCH1 (P20R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2238087	NM_014988.5(LIMCH1):c.154A>G (p.Ile52Val)	LIMCH1 (I52V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2255965	NM_001330672.2(LIMCH1):c.-156A>G	LIMCH1 (T108A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2489991	NM_001330672.2(LIMCH1):c.-125A>T	LIMCH1 (D118V)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2512823	NM_001330672.2(LIMCH1):c.-42A>G	LIMCH1 (T146A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2205268	NM_001330672.2(LIMCH1):c.-15G>A	LIMCH1 (G155R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2252259	NM_001330672.2(LIMCH1):c.157T>G (p.Ser53Ala)	LIMCH1 (S53A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2515258	NM_001330672.2(LIMCH1):c.160C>T (p.Arg54Trp)	LIMCH1 (R213W +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2210469	NM_001330672.2(LIMCH1):c.166A>C (p.Thr56Pro)	LIMCH1 (T215P +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2280677	NM_001330672.2(LIMCH1):c.290C>G (p.Ser97Cys)	LIMCH1 (S102C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2485492	NM_001330672.2(LIMCH1):c.407G>T (p.Arg136Leu)	LIMCH1 (R295L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2513241	NM_001330672.2(LIMCH1):c.424G>A (p.Ala142Thr)	LIMCH1 (A142T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2654740	NM_001330672.2(LIMCH1):c.1662G>A (p.Pro554=)	LIMCH1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2467402	NM_001330672.2(LIMCH1):c.2137A>G (p.Met713Val)	LIMCH1 (M157V +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2608200	NM_001330672.2(LIMCH1):c.2168C>T (p.Ala723Val)	LIMCH1 (A167V +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2295735	NM_001330672.2(LIMCH1):c.2264G>A (p.Arg755His)	LIMCH1 (R358H +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2210621	NM_001330672.2(LIMCH1):c.2531G>T (p.Arg844Leu)	LIMCH1 (R305L +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2244461	NM_001330672.2(LIMCH1):c.2623C>T (p.Arg875Trp)	LIMCH1 (R331W +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2244885	NM_001330672.2(LIMCH1):c.2624G>A (p.Arg875Gln)	LIMCH1 (R319Q +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2654741	NM_001330672.2(LIMCH1):c.2677G>A (p.Ala893Thr)	LIMCH1 (A337T +6 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2235987	NM_001330672.2(LIMCH1):c.2812A>G (p.Thr938Ala)	LIMCH1 (T382A +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2401940	NM_001330672.2(LIMCH1):c.2852C>T (p.Thr951Met)	LIMCH1 (T407M +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2392744	NM_001330672.2(LIMCH1):c.2905C>T (p.His969Tyr)	LIMCH1 (H413Y +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2398828	NM_001330672.2(LIMCH1):c.2932G>A (p.Glu978Lys)	LIMCH1 (E439K +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2289125	NM_001330672.2(LIMCH1):c.2933A>G (p.Glu978Gly)	LIMCH1 (E422G +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2482562	NM_001330672.2(LIMCH1):c.2936G>C (p.Gly979Ala)	LIMCH1 (G428A +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2654742	NM_001330672.2(LIMCH1):c.3033C>T (p.Leu1011=)	LIMCH1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2343426	NM_001330672.2(LIMCH1):c.3067C>G (p.Gln1023Glu)	LIMCH1 (Q467E +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2548258	NM_001330672.2(LIMCH1):c.3071A>G (p.Glu1024Gly)	LIMCH1 (E639G +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2372815	NM_001330672.2(LIMCH1):c.3089G>A (p.Gly1030Glu)	LIMCH1 (G474E +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2592474	NM_001330672.2(LIMCH1):c.3118G>A (p.Ala1040Thr)	LIMCH1 (A484T +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2555845	NM_001330672.2(LIMCH1):c.3131C>T (p.Pro1044Leu)	LIMCH1 (P488L +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2471287	NM_001330672.2(LIMCH1):c.3158G>A (p.Arg1053Gln)	LIMCH1 (R1053Q +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2355648	NM_001330672.2(LIMCH1):c.3231A>C (p.Lys1077Asn)	LIMCH1 (K1077N +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2329959	NM_001330672.2(LIMCH1):c.3338C>T (p.Pro1113Leu)	LIMCH1 (P562L +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2339062	NM_001330672.2(LIMCH1):c.3365A>G (p.Asn1122Ser)	LIMCH1 (N583S +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2541540	NM_001330672.2(LIMCH1):c.3473G>A (p.Arg1158His)	LIMCH1 (R1158H +9 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2530869	NM_001330672.2(LIMCH1):c.3539A>C (p.Gln1180Pro)	LIMCH1 (Q1180P +11 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2345803	NM_001330672.2(LIMCH1):c.3667G>A (p.Ala1223Thr)	LIMCH1 (A684T +11 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2282079	NM_001330672.2(LIMCH1):c.3753A>C (p.Lys1251Asn)	LIMCH1 (K1251N +11 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2354123	NM_001330672.2(LIMCH1):c.3900T>G (p.His1300Gln)	LIMCH1 (H769Q +11 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2619659	NM_001330672.2(LIMCH1):c.3907C>T (p.His1303Tyr)	LIMCH1 (H752Y +11 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2654743	NM_001330672.2(LIMCH1):c.3952C>T (p.Pro1318Ser)	LIMCH1 (P1318S +11 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2313895	NM_001330672.2(LIMCH1):c.3996T>A (p.Asn1332Lys)	LIMCH1 (N793K +11 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2367030	NM_001330672.2(LIMCH1):c.4005C>A (p.His1335Gln)	LIMCH1 (H796Q +11 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2220585	NM_001330672.2(LIMCH1):c.4066G>A (p.Glu1356Lys)	LIMCH1 (E805K +11 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2613995	NM_001330672.2(LIMCH1):c.4100G>T (p.Arg1367Leu)	LIMCH1 (R1367L +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2242718	NM_001330672.2(LIMCH1):c.4222G>A (p.Ala1408Thr)	LIMCH1 (A1023T +19 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3062750	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	ABLIM2, ACOX3 +226 more	Copy number gain	not specified	GPathogenic
Select item 2506554	GRCh37/hg19 4p14-13(chr4:40337485-41941400)	APBB2, CHRNA9 +6 more	Copy number loss	not provided	GPathogenic
Select item 1808360	GRCh37/hg19 4p13(chr4:41272231-41402450)x1	LIMCH1	Copy number loss	not provided	GUncertain significance
Select item 1711164	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	ABLIM2, ACOX3 +226 more	Copy number gain	See cases	GPathogenic
Select item 1704651	GRCh37/hg19 4p16.3-12(chr4:114784-47569569)x3	ABLIM2, ACOX3 +212 more	Copy number gain	FETAL DEMISE	GPathogenic
Select item 1411128	NC_000004.11:g.(?_38765721)_(41750627_?)dup	KLB, LIAS +22 more	Duplication	Lipoic acid synthetase deficiency	GUncertain significance
Select item 929396	GRCh37/hg19 4p16.3-11(chr4:49450-49620898)x3	KLF3, KLHL5 +226 more	Copy number gain	See cases	GPathogenic
Select item 562874	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	GABRA2, GABRA4 +226 more	Copy number gain	not provided	GPathogenic
Select item 441812	GRCh37/hg19 4p16.3-q13.1(chr4:68345-66440622)x3	AASDH, ABLIM2 +267 more	Copy number gain	See cases	GPathogenic
Select item 441728	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)	AADAT, AASDH +745 more	Copy number gain	See cases	GPathogenic
Select item 441727	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	SCRG1, SDAD1 +745 more	Copy number gain	See cases	GPathogenic
Select item 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	CCKAR, CWH43 +744 more	Copy number gain	See cases	GPathogenic
Select item 253503	GRCh37/hg19 4p16.3-11(chr4:12440-49064044)x3	ABLIM2, ACOX3 +226 more	Copy number gain	See cases	GPathogenic
Select item 253447	GRCh37/hg19 4p14-11(chr4:38532827-49064044)x3	CHRNA9, CWH43 +54 more	Copy number gain	See cases	GPathogenic

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Items: 68