MPND[gene] - ClinVar

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Items: 75

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58787	GRCh38/hg38 19p13.3(chr19:233565-4699472)x3	LOC130063041, LOC130063042 +687 more	Copy number gain	See cases	GPathogenic
Select item 154560	GRCh38/hg38 19p13.3(chr19:259395-6795611)x3	LOC130062978, LOC130062979 +903 more	Copy number gain	See cases	GPathogenic
Select item 59082	GRCh38/hg38 19p13.3-13.2(chr19:1972245-9648879)x3	LOC130063254, LOC130063255 +810 more	Copy number gain	See cases	GPathogenic
Select item 148645	GRCh38/hg38 19p13.3(chr19:3080621-4912622)x3	ANKRD24, APBA3 +223 more	Copy number gain	See cases	GLikely pathogenic
Select item 145080	GRCh38/hg38 19p13.3(chr19:3338024-4833139)x1	LOC121852974, LOC125371451 +193 more	Copy number loss	See cases	GPathogenic
Select item 60071	GRCh38/hg38 19p13.3(chr19:3554635-4690965)x1	PIP5K1C, PLIN4 +142 more	Copy number loss	See cases	GPathogenic
Select item 155547	GRCh38/hg38 19p13.3(chr19:3788727-5147354)x1	ANKRD24, ARRDC5 +150 more	Copy number loss	See cases	GLikely pathogenic
Select item 144751	GRCh38/hg38 19p13.3(chr19:3947934-5196676)x3	ANKRD24, ARRDC5 +145 more	Copy number gain	See cases	GUncertain significance
Select item 59083	GRCh38/hg38 19p13.3(chr19:4008560-4763159)x3	ANKRD24, CHAF1A +99 more	Copy number gain	See cases	GPathogenic
Select item 3202470	NM_001300862.2(MPND):c.38C>T (p.Ala13Val)	MPND (A13V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202472	NM_001300862.2(MPND):c.41G>A (p.Gly14Asp)	MPND (G14D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371501	NM_001300862.2(MPND):c.69C>G (p.Asp23Glu)	MPND (D23E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354278	NM_001300862.2(MPND):c.92A>C (p.Glu31Ala)	MPND (E31A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250628	NM_001300862.2(MPND):c.104C>T (p.Ala35Val)	MPND (A35V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508571	NM_001300862.2(MPND):c.145G>C (p.Val49Leu)	MPND (V49L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532981	NM_001300862.2(MPND):c.251C>A (p.Ala84Glu)	MPND (A84E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209239	NM_001300862.2(MPND):c.272G>A (p.Gly91Glu)	MPND (G91E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202455	NM_001300862.2(MPND):c.313G>A (p.Asp105Asn)	MPND (D105N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202461	NM_001300862.2(MPND):c.332G>A (p.Arg111Lys)	MPND (R111K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382912	NM_001300862.2(MPND):c.370C>T (p.Pro124Ser)	MPND (P124S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608891	NM_001300862.2(MPND):c.373A>T (p.Ser125Cys)	MPND (S125C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202475	NM_001300862.2(MPND):c.428G>A (p.Cys143Tyr)	MPND (C143Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620467	NM_001300862.2(MPND):c.487C>T (p.Leu163Phe)	MPND (L163F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469283	NM_001300862.2(MPND):c.490C>T (p.Arg164Trp)	MPND (R164W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466464	NM_001300862.2(MPND):c.491G>A (p.Arg164Gln)	MPND (R164Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3295707	NM_001300862.2(MPND):c.526G>T (p.Asp176Tyr)	MPND (D176Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477694	NM_001300862.2(MPND):c.581A>G (p.Glu194Gly)	MPND (E194G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3295705	NM_001300862.2(MPND):c.589G>A (p.Val197Ile)	MPND (V197I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409513	NM_001300862.2(MPND):c.629C>A (p.Pro210Gln)	MPND (P210Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290825	NM_001300862.2(MPND):c.686G>T (p.Arg229Leu)	MPND (R229L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608504	NM_001300862.2(MPND):c.693C>G (p.Asp231Glu)	MPND (D231E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2468479	NM_001300862.2(MPND):c.716G>A (p.Arg239His)	MPND (R239H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3295709	NM_001300862.2(MPND):c.739G>A (p.Asp247Asn)	MPND (D247N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380561	NM_001300862.2(MPND):c.778T>A (p.Ser260Thr)	MPND (S260T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302763	NM_001300862.2(MPND):c.806C>T (p.Pro269Leu)	MPND (P269L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3295708	NM_001300862.2(MPND):c.812A>G (p.Asn271Ser)	MPND (N271S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202510	NM_001300862.2(MPND):c.832G>A (p.Val278Met)	MPND (V278M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202516	NM_001300862.2(MPND):c.844C>G (p.Leu282Val)	MPND (L282V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3295706	NM_001300862.2(MPND):c.895G>T (p.Gly299Cys)	MPND (G299C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3202519	NM_001300862.2(MPND):c.928G>A (p.Val310Met)	MPND (V310M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3202526	NM_001300862.2(MPND):c.958C>T (p.Leu320Phe)	MPND (L320F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2522636	NM_001300862.2(MPND):c.961G>A (p.Gly321Arg)	MPND (G321R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2337683	NM_001300862.2(MPND):c.987C>G (p.Ile329Met)	MPND (I329M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3202533	NM_001300862.2(MPND):c.988G>A (p.Glu330Lys)	MPND (E330K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3202407	NM_001300862.2(MPND):c.1018C>T (p.Arg340Trp)	MPND (R290W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202413	NM_001300862.2(MPND):c.1097A>G (p.Gln366Arg)	MPND (Q316R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234959	NM_001300862.2(MPND):c.1124G>A (p.Gly375Asp)	MPND (G375D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202418	NM_001300862.2(MPND):c.1153G>A (p.Ala385Thr)	MPND (A385T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319083	NM_001300862.2(MPND):c.1153G>C (p.Ala385Pro)	MPND (A335P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236339	NM_001300862.2(MPND):c.1208C>T (p.Ser403Leu)	MPND (S353L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592012	NM_001300862.2(MPND):c.1379A>G (p.Glu460Gly)	MPND (E430G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592013	NM_001300862.2(MPND):c.1380A>T (p.Glu460Asp)	MPND (E430D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592014	NM_001300862.2(MPND):c.1381C>T (p.Pro461Ser)	MPND (P411S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525157	NM_001300862.2(MPND):c.1439C>T (p.Thr480Met)	MPND (T480M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364072	NM_001300862.2(MPND):c.1455C>A (p.Ser485Arg)	MPND (S455R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202433	NM_001300862.2(MPND):c.1465G>A (p.Val489Ile)	MPND (V439I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202436	NM_001300862.2(MPND):c.1481G>A (p.Cys494Tyr)	MPND (C464Y +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2552824	NM_001300862.2(MPND):c.1482C>G (p.Cys494Trp)	MPND (C464W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352756	NM_001300862.2(MPND):c.1483G>A (p.Gly495Ser)	MPND (G495S +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3242666	NC_000019.9:g.(?_3917720)_(4818389_?)dup	ANKRD24, ATCAY +27 more	Duplication	not provided	GUncertain significance
Select item 3062397	GRCh37/hg19 19p13.3(chr19:4337998-4809241)x1	CHAF1A, DPP9 +11 more	Copy number loss	not specified	GUncertain significance
Select item 3062389	GRCh37/hg19 19p13.3(chr19:3788725-4881494)x1	EBI3, EEF2 +30 more	Copy number loss	not specified	GUncertain significance
Select item 2684882	GRCh37/hg19 19p13.3-13.2(chr19:260912-7246777)x3	MBD3L3, MBD3L4 +202 more	Copy number gain	not provided	GPathogenic
Select item 2425228	NC_000019.9:g.(?_589946)_(5696788_?)dup	TLE5, TLE6 +151 more	Duplication	not provided	GUncertain significance
Select item 2423454	NC_000019.9:g.(?_589946)_(4818389_?)dup	ABCA7, ABHD17A +138 more	Duplication	not provided	GUncertain significance
Select item 1340547	GRCh37/hg19 19p13.3(chr19:3501624-5357124)x1	ANKRD24, APBA3 +46 more	Copy number loss	not provided	GPathogenic
Select item 1340338	GRCh37/hg19 19p13.3(chr19:4182912-4633772)x3	ANKRD24, CHAF1A +13 more	Copy number gain	not provided	GUncertain significance
Select item 1047892	GRCh37/hg19 19p13.3(chr19:3976203-4345430)	PIAS4, SHD +12 more	Copy number loss	Global developmental delay +1 more	GPathogenic
Select item 816518	GRCh37/hg19 19p13.3(chr19:260912-4384674)x3	ABCA7, ABHD17A +138 more	Copy number gain	See cases	GPathogenic
Select item 686280	GRCh37/hg19 19p13.3(chr19:260911-4788357)x3	ABCA7, ABHD17A +147 more	Copy number gain	not provided	GPathogenic
Select item 625734	GRCh37/hg19 19p13.3(chr19:3076808-4796782)	ANKRD24, APBA3 +48 more	Copy number loss	not provided	GPathogenic
Select item 564607	GRCh37/hg19 19p13.3-13.2(chr19:3120160-9732820)x3	ACER1, ACSBG2 +165 more	Copy number gain	not provided	GPathogenic
Select item 549647	Single allele	CREB3L3, SHD +28 more	Duplication	Primary amenorrhea	GUncertain significance
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic

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Items: 75