MMEL1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	LOC112577491, LOC112577504 +2149 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 58242	GRCh38/hg38 1p36.33-36.23(chr1:629025-8537745)x1	LOC129929074, LOC129929075 +520 more	Copy number loss	See cases	GPathogenic
Select item 58244	GRCh38/hg38 1p36.33-36.31(chr1:629044-7008678)x1	LOC129929144, LOC129929145 +458 more	Copy number loss	See cases	GPathogenic
Select item 58243	GRCh38/hg38 1p36.33-36.32(chr1:629044-3346226)x1	LOC129929179, LOC129929180 +282 more	Copy number loss	See cases	GPathogenic
Select item 151451	GRCh38/hg38 1p36.33-36.32(chr1:778698-4898439)x1	ACAP3, ACTRT2 +336 more	Copy number loss	See cases	GPathogenic
Select item 58036	GRCh38/hg38 1p36.33-36.32(chr1:792758-5006311)x3	LINC01786, LINC02593 +338 more	Copy number gain	See cases	GPathogenic
Select item 152849	GRCh38/hg38 1p36.33-36.32(chr1:821713-4225085)x1	LOC129929191, LOC129929192 +325 more	Copy number loss	See cases	GPathogenic
Select item 152807	GRCh38/hg38 1p36.33-36.32(chr1:821713-5099990)x1	ACAP3, ACTRT2 +337 more	Copy number loss	See cases	GPathogenic
Select item 152695	GRCh38/hg38 1p36.33-36.32(chr1:821713-2976123)x1	ACAP3, AGRN +254 more	Copy number loss	See cases	GPathogenic
Select item 152675	GRCh38/hg38 1p36.33-36.32(chr1:821713-2636393)x1	LOC129929104, LOC129929105 +249 more	Copy number loss	See cases	GPathogenic
Select item 152050	GRCh38/hg38 1p36.33-36.31(chr1:821713-5480263)x1	VWA1, WRAP73 +341 more	Copy number loss	See cases	GPathogenic
Select item 150995	GRCh38/hg38 1p36.33-36.32(chr1:821713-3438208)x1	ACAP3, ACTRT2 +275 more	Copy number loss	See cases	GPathogenic
Select item 149968	GRCh38/hg38 1p36.33-36.31(chr1:821713-7000838)x1	CEP104, CFAP74 +449 more	Copy number loss	See cases	GPathogenic
Select item 149171	GRCh38/hg38 1p36.33-36.32(chr1:821713-3569891)x1	ACAP3, ACTRT2 +284 more	Copy number loss	See cases	GPathogenic
Select item 149107	GRCh38/hg38 1p36.33-36.32(chr1:821713-3928354)x3	LOC129929084, LOC129929085 +320 more	Copy number gain	See cases	GLikely pathogenic
Select item 148916	GRCh38/hg38 1p36.33-36.32(chr1:821713-5239643)x1	ACAP3, ACTRT2 +337 more	Copy number loss	See cases	GPathogenic
Select item 58245	GRCh38/hg38 1p36.33-36.32(chr1:821713-4155674)x1	ACAP3, ACTRT2 +325 more	Copy number loss	See cases	GPathogenic
Select item 58037	GRCh38/hg38 1p36.33-36.32(chr1:826553-4719105)x3	ACAP3, ACTRT2 +332 more	Copy number gain	See cases	GPathogenic
Select item 160923	GRCh38/hg38 1p36.33-36.32(chr1:844347-2627474)x1	ACAP3, AGRN +244 more	Copy number loss	See cases	GPathogenic
Select item 154642	GRCh38/hg38 1p36.33-36.23(chr1:844347-7870545)x1	PUSL1, RER1 +470 more	Copy number loss	See cases	GPathogenic
Select item 147521	GRCh38/hg38 1p36.33-36.22(chr1:844347-12470133)x1	ACAP3, ACOT7 +806 more	Copy number loss	See cases	GPathogenic
Select item 147354	GRCh38/hg38 1p36.33-36.23(chr1:844347-8171914)x1	LOC129929192, LOC129929193 +490 more	Copy number loss	See cases	GPathogenic
Select item 144707	GRCh38/hg38 1p36.33-36.32(chr1:844347-4398122)x1	ACAP3, ACTRT2 +325 more	Copy number loss	See cases	GPathogenic
Select item 144461	GRCh38/hg38 1p36.33-36.31(chr1:844347-6916587)x1	ACAP3, ACOT7 +441 more	Copy number loss	See cases	GPathogenic
Select item 58289	GRCh38/hg38 1p36.33-36.32(chr1:844347-4665295)x1	ACAP3, ACTRT2 +329 more	Copy number loss	See cases	GPathogenic
Select item 57440	GRCh38/hg38 1p36.33-36.31(chr1:844347-6477436)x1	ACAP3, ACOT7 +401 more	Copy number loss	See cases	GPathogenic
Select item 57218	GRCh38/hg38 1p36.33-36.32(chr1:844347-3712147)x1	ACAP3, ACTRT2 +292 more	Copy number loss	See cases	GPathogenic
Select item 57201	GRCh38/hg38 1p36.33-36.32(chr1:844347-3006252)x1	LOC129929161, LOC129929162 +252 more	Copy number loss	See cases	GPathogenic
Select item 57120	GRCh38/hg38 1p36.33-36.32(chr1:844347-2627474)x1	LOC129929114, LOC129929115 +244 more	Copy number loss	See cases	GPathogenic
Select item 57052	GRCh38/hg38 1p36.33-36.32(chr1:844347-3319395)x1	ACAP3, ACTRT2 +270 more	Copy number loss	See cases	GPathogenic
Select item 57049	GRCh38/hg38 1p36.33-36.31(chr1:844347-5682587)x1	LINC01786, LINC02593 +339 more	Copy number loss	See cases	GPathogenic
Select item 150566	GRCh38/hg38 1p36.33-36.31(chr1:844353-6477474)x1	LOC129929237, LOC129929238 +401 more	Copy number loss	See cases	GPathogenic
Select item 149739	GRCh38/hg38 1p36.33-36.32(chr1:844353-3153909)x1	ACAP3, ACTRT2 +260 more	Copy number loss	See cases	GPathogenic
Select item 145360	GRCh38/hg38 1p36.33-36.31(chr1:844353-5827192)x3	ACAP3, ACTRT2 +341 more	Copy number gain	See cases	GPathogenic
Select item 145356	GRCh38/hg38 1p36.33-36.32(chr1:844353-3487877)x1	ACAP3, ACTRT2 +274 more	Copy number loss	See cases	GPathogenic
Select item 58294	GRCh38/hg38 1p36.33-36.23(chr1:859215-8747647)x1	ACAP3, ACOT7 +519 more	Copy number loss	See cases	GPathogenic
Select item 58311	GRCh38/hg38 1p36.33-36.32(chr1:870177-4426613)x1	ACAP3, ACTRT2 +325 more	Copy number loss	See cases	GPathogenic
Select item 58316	GRCh38/hg38 1p36.33-36.32(chr1:872305-2642603)x1	ACAP3, AGRN +246 more	Copy number loss	See cases	GPathogenic
Select item 58315	GRCh38/hg38 1p36.33-36.32(chr1:872305-2642603)x3	ACAP3, AGRN +246 more	Copy number gain	See cases	GPathogenic
Select item 58314	GRCh38/hg38 1p36.33-36.32(chr1:872305-4133409)x1	ACAP3, ACTRT2 +320 more	Copy number loss	See cases	GPathogenic
Select item 58313	GRCh38/hg38 1p36.33-36.32(chr1:872305-3054463)x1	LOC126805582, LOC129388419 +253 more	Copy number loss	See cases	GPathogenic
Select item 147545	GRCh38/hg38 1p36.33-36.32(chr1:874379-4973261)x1	ACAP3, ACTRT2 +328 more	Copy number loss	See cases	GPathogenic
Select item 154584	GRCh38/hg38 1p36.33-36.23(chr1:898721-7811306)x1	LOC129929075, LOC129929076 +464 more	Copy number loss	See cases	GPathogenic
Select item 153078	GRCh38/hg38 1p36.33-36.22(chr1:902111-9556305)x1	ACAP3, ACOT7 +578 more	Copy number loss	See cases	GPathogenic
Select item 154687	GRCh38/hg38 1p36.33-36.32(chr1:911300-2963389)x1	ACAP3, AGRN +247 more	Copy number loss	See cases	GPathogenic
Select item 154548	GRCh38/hg38 1p36.33-36.22(chr1:911300-9329925)x1	LRRC47, MEGF6 +564 more	Copy number loss	See cases	GPathogenic
Select item 144176	GRCh38/hg38 1p36.33-36.32(chr1:911300-3614487)x3	ACAP3, ACTRT2 +277 more	Copy number gain	See cases	GPathogenic
Select item 153663	GRCh38/hg38 1p36.33-36.22(chr1:914086-9567122)x1	LOC129929302, LOC129929303 +577 more	Copy number loss	See cases	GPathogenic
Select item 153195	GRCh38/hg38 1p36.33-36.32(chr1:914086-3587042)x1	ACAP3, ACTRT2 +277 more	Copy number loss	See cases	GPathogenic
Select item 152333	GRCh38/hg38 1p36.33-36.32(chr1:914086-3305463)x1	ACAP3, ACTRT2 +264 more	Copy number loss	See cases	GPathogenic
Select item 148305	GRCh38/hg38 1p36.33-36.32(chr1:1022094-4665295)x1	ACAP3, ACTRT2 +301 more	Copy number loss	See cases	GPathogenic
Select item 149947	GRCh38/hg38 1p36.33-36.32(chr1:1072906-2806838)x1	ACAP3, ANKRD65 +209 more	Copy number loss	See cases	GPathogenic
Select item 144807	GRCh38/hg38 1p36.33-36.32(chr1:1118636-4179080)x1	ACAP3, ACTRT2 +273 more	Copy number loss	See cases	GPathogenic
Select item 58318	GRCh38/hg38 1p36.33-36.31(chr1:1181847-5507243)x1	ACAP3, ACTRT2 +273 more	Copy number loss	See cases	GPathogenic
Select item 150863	GRCh38/hg38 1p36.33-36.32(chr1:1330915-3743546)x3	LOC129929178, LOC129929179 +195 more	Copy number gain	See cases	GUncertain significance
Select item 58319	GRCh38/hg38 1p36.33-36.32(chr1:1482278-3152536)x1	ACTRT2, ATAD3A +125 more	Copy number loss	See cases	GPathogenic
Select item 150036	GRCh38/hg38 1p36.33-36.32(chr1:1756301-3649513)x4	ACTRT2, ARHGEF16 +117 more	Copy number gain	See cases	GUncertain significance
Select item 2499639	GRCh38/hg38 1p36.32(chr1:2518272-4413203)	LOC126805582, LOC126805583 +88 more	Copy number gain	Anomalous pulmonary venous return	GUncertain significance
Select item 144793	GRCh38/hg38 1p36.32(chr1:2563698-2689265)x3	LOC100996583, LOC121967050 +7 more	Copy number gain	See cases	GBenign
Select item 2231279	NM_033467.4(MMEL1):c.2311C>T (p.His771Tyr)	MMEL1, PRXL2B (H771Y)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3219778	NM_033467.4(MMEL1):c.2303C>A (p.Thr768Asn)	MMEL1, PRXL2B (T768N)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2364602	NM_033467.4(MMEL1):c.2296C>T (p.Arg766Trp)	MMEL1, PRXL2B (R766W)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2308353	NM_033467.4(MMEL1):c.2288A>G (p.His763Arg)	MMEL1, PRXL2B (H763R)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3219682	NM_033467.4(MMEL1):c.2286C>A (p.Phe762Leu)	MMEL1, PRXL2B (F762L)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2409143	NM_033467.4(MMEL1):c.2275G>A (p.Ala759Thr)	MMEL1, PRXL2B (A759T)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2542619	NM_033467.4(MMEL1):c.2231T>C (p.Leu744Pro)	MMEL1 (L744P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385219	NM_033467.4(MMEL1):c.2218G>A (p.Val740Ile)	MMEL1 (V740I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219533	NM_033467.4(MMEL1):c.2194G>A (p.Ala732Thr)	MMEL1 (A732T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465221	NM_033467.4(MMEL1):c.2173G>A (p.Gly725Arg)	MMEL1 (G725R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 719937	NM_033467.4(MMEL1):c.2163+10G>A	MMEL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 737413	NM_033467.4(MMEL1):c.2122G>A (p.Asp708Asn)	MMEL1 (D708N)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2512082	NM_033467.4(MMEL1):c.2083A>G (p.Met695Val)	MMEL1 (M695V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 708734	NM_033467.4(MMEL1):c.2033T>C (p.Ile678Thr)	MMEL1 (I678T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2290441	NM_033467.4(MMEL1):c.2024G>C (p.Gly675Ala)	MMEL1 (G675A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 719695	NM_033467.4(MMEL1):c.2002-5C>T	MMEL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2212618	NM_033467.4(MMEL1):c.1978T>C (p.Trp660Arg)	MMEL1 (W660R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218169	NM_033467.4(MMEL1):c.1957T>C (p.Tyr653His)	MMEL1 (Y653H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2296586	NM_033467.4(MMEL1):c.1952T>C (p.Met651Thr)	MMEL1 (M651T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219269	NM_033467.4(MMEL1):c.1913A>C (p.Asn638Thr)	MMEL1 (N638T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219229	NM_033467.4(MMEL1):c.1881C>A (p.Asp627Glu)	MMEL1 (D627E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 719696	NM_033467.4(MMEL1):c.1848G>A (p.Thr616=)	MMEL1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2206255	NM_033467.4(MMEL1):c.1834G>A (p.Gly612Arg)	MMEL1 (G612R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219167	NM_033467.4(MMEL1):c.1711G>A (p.Val571Ile)	MMEL1 (V571I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596755	NM_033467.4(MMEL1):c.1706C>T (p.Ala569Val)	MMEL1 (A569V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214221	NM_033467.4(MMEL1):c.1642G>A (p.Ala548Thr)	MMEL1 (A548T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278040	NM_033467.4(MMEL1):c.1562G>A (p.Arg521His)	MMEL1 (R521H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3219042	NM_033467.4(MMEL1):c.1514G>A (p.Arg505Gln)	MMEL1 (R505Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408565	NM_033467.4(MMEL1):c.1509C>G (p.Ser503Arg)	MMEL1 (S503R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 778203	NM_033467.4(MMEL1):c.1491G>A (p.Ala497=)	MMEL1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 783918	NM_033467.4(MMEL1):c.1476G>A (p.Glu492=)	MMEL1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3218972	NM_033467.4(MMEL1):c.1453G>A (p.Glu485Lys)	MMEL1 (E485K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592335	NM_033467.4(MMEL1):c.1453G>C (p.Glu485Gln)	MMEL1 (E485Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253025	NM_033467.4(MMEL1):c.1420A>G (p.Lys474Glu)	MMEL1 (K474E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304965	NM_033467.4(MMEL1):c.1348G>A (p.Ala450Thr)	MMEL1 (A450T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218894	NM_033467.4(MMEL1):c.1220G>T (p.Arg407Leu)	MMEL1 (R407L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405529	NM_033467.4(MMEL1):c.1205G>A (p.Arg402His)	MMEL1 (R402H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218846	NM_033467.4(MMEL1):c.1159A>T (p.Ile387Phe)	MMEL1 (I387F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218813	NM_033467.4(MMEL1):c.1084G>A (p.Val362Ile)	MMEL1 (V362I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 732006	NM_033467.4(MMEL1):c.1075C>T (p.Leu359=)	MMEL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2352461	NM_033467.4(MMEL1):c.1050C>A (p.Asn350Lys)	MMEL1 (N350K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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