RMDN1[gene] - ClinVar

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Items: 56

	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 150723	GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3	LINC02894, LINC02906 +1960 more	Copy number gain	See cases	GPathogenic
Select item 147946	GRCh38/hg38 8q13.1-22.1(chr8:66171669-93505509)x3	LOC130000602, LOC130000603 +470 more	Copy number gain	See cases	GPathogenic
Select item 150141	GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3	LOC130001211, LOC130001212 +1690 more	Copy number gain	See cases	GPathogenic
Select item 60379	GRCh38/hg38 8q21.13-21.3(chr8:77765431-91839285)x1	ATP6V0D2, C8orf88 +217 more	Copy number loss	See cases	GPathogenic
Select item 154530	GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3	LOC130001139, LOC130001140 +1686 more	Copy number gain	See cases	GPathogenic
Select item 60380	GRCh38/hg38 8q21.13-22.1(chr8:78672463-95366868)x1	LOC130000705, LOC130000706 +327 more	Copy number loss	See cases	GPathogenic
Select item 155179	GRCh38/hg38 8q21.2-21.3(chr8:83721453-87866414)x3	ATP6V0D2, CA1 +46 more	Copy number gain	See cases	GUncertain significance
Select item 155592	GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3	LOC126860518, LOC126860519 +1552 more	Copy number gain	See cases	GPathogenic
Select item 155142	GRCh38/hg38 8q21.2-21.3(chr8:85833750-86478465)x3	ATP6V0D2, LOC105375623 +10 more	Copy number gain	See cases	GUncertain significance
Select item 146316	GRCh38/hg38 8q21.3-24.23(chr8:86300584-137022587)x3	AARD, ABRA +1152 more	Copy number gain	See cases	GPathogenic
Select item 2518809	NM_016033.3(RMDN1):c.880G>C (p.Glu294Gln)	RMDN1 (E251Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365730	NM_016033.3(RMDN1):c.871G>A (p.Ala291Thr)	RMDN1 (A248T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154779	NM_016033.3(RMDN1):c.752C>T (p.Ala251Val)	RMDN1 (A207V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495476	NM_016033.3(RMDN1):c.703A>G (p.Thr235Ala)	RMDN1 (T191A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291815	NM_016033.3(RMDN1):c.512T>G (p.Leu171Arg)	RMDN1 (L127R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3154778	NM_016033.3(RMDN1):c.491A>G (p.His164Arg)	RMDN1 (H120R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611653	NM_016033.3(RMDN1):c.377G>A (p.Arg126His)	RMDN1 (R82H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350221	NM_016033.3(RMDN1):c.289G>A (p.Gly97Arg)	RMDN1 (G97R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2496424	NM_016033.3(RMDN1):c.269C>T (p.Ala90Val)	RMDN1 (A46V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154777	NM_016033.3(RMDN1):c.235G>A (p.Ala79Thr)	RMDN1 (A79T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527419	NM_016033.3(RMDN1):c.168A>C (p.Leu56Phe)	RMDN1 (L56F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411335	NM_016033.3(RMDN1):c.64C>T (p.Arg22Cys)	LOC130000699, RMDN1 (R22C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2301096	NM_016033.3(RMDN1):c.47G>T (p.Gly16Val)	LOC130000699, RMDN1 (G16V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2285032	NM_016033.3(RMDN1):c.24G>T (p.Trp8Cys)	LOC130000699, RMDN1 (W8C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063037	GRCh37/hg19 8q21.2-21.3(chr8:85339090-89534521)x3	ATP6V0D2, CA1 +16 more	Copy number gain	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 2685316	GRCh37/hg19 8q21.3-22.1(chr8:86955187-94955826)x1	ATP6V0D2, CALB1 +26 more	Copy number loss	not provided	GUncertain significance
Select item 2685315	GRCh37/hg19 8q21.13-22.1(chr8:84127576-98263585)x1	ATP6V0D2, CA1 +53 more	Copy number loss	not provided	GPathogenic
Select item 2684546	GRCh37/hg19 8q21.12-22.3(chr8:79046933-102008860)x3	ANKRD46, ATP6V0D2 +96 more	Copy number gain	not provided	GPathogenic
Select item 2426512	NC_000008.10:g.(?_86053597)_(87755855_?)dup	CA3, CA2 +12 more	Duplication	not provided	GUncertain significance
Select item 1808681	GRCh37/hg19 8q21.12-24.11(chr8:79409349-119040631)x3	AARD, ABRA +141 more	Copy number gain	not provided	GPathogenic
Select item 1808479	GRCh37/hg19 8q21.2-21.3(chr8:86841155-88126932)x1	ATP6V0D2, CNBD1 +6 more	Copy number loss	not provided	GUncertain significance
Select item 1808058	GRCh37/hg19 8q21.3(chr8:87010235-91879538)x1	ATP6V0D2, CALB1 +15 more	Copy number loss	not provided	GUncertain significance
Select item 1711167	GRCh37/hg19 8q13.2-24.3(chr8:68912432-146295771)x2	AARD, ABRA +335 more	Copy number gain	See cases	GPathogenic
Select item 1706511	GRCh37/hg19 8q21.2-24.3(chr8:84712253-146295771)x3	AARD, ABRA +285 more	Copy number gain	See cases	GPathogenic
Select item 1703544	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)	AARD, ABRA +665 more	Copy number gain	Polydactyly	GPathogenic
Select item 1527444	GRCh37/hg19 8q21.11-21.3(chr8:77906471-88917707)	ATP6V0D2, CA1 +36 more	Copy number loss	not specified	GPathogenic
Select item 1527440	GRCh37/hg19 8q13.2-24.3(chr8:70382990-146295771)	DCAF4L2, DCSTAMP +333 more	Copy number gain	not specified	GPathogenic
Select item 1339987	GRCh37/hg19 8q21.3(chr8:87429000-87605195)x1	CNGB3, CPNE3 +2 more	Copy number loss	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 685054	GRCh37/hg19 8q21.13-21.3(chr8:84358585-89159915)x1	ATP6V0D2, CA1 +16 more	Copy number loss	not provided	GUncertain significance
Select item 563556	GRCh37/hg19 8q21.2-23.3(chr8:86841154-116518125)x3	DCAF13, CNGB3 +105 more	Copy number gain	not provided	GPathogenic
Select item 443924	GRCh37/hg19 8q21.2-24.3(chr8:86841154-146295771)x3	AARD, ABRA +277 more	Copy number gain	See cases	GPathogenic
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 441594	GRCh37/hg19 8q21.2-24.3(chr8:86841228-142689874)x3	SLC45A4, SLC7A13 +189 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

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Items: 56