PM20D1[gene] - ClinVar

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Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58112	GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3	LOC129932244, LOC129932245 +1147 more	Copy number gain	See cases	GPathogenic
Select item 545154	NC_000001.11:g.(?_204033173)_(208209798_?)del	AVPR1B, AVPR1B-DT +278 more	Deletion	Autism	GLikely pathogenic
Select item 153790	GRCh38/hg38 1q32.1-42.12(chr1:204764914-225408698)x3	LOC126806027, LOC126806028 +723 more	Copy number gain	See cases	GPathogenic
Select item 2364967	NM_152491.5(PM20D1):c.1459C>A (p.Gln487Lys)	PM20D1 (Q487K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2591228	NM_152491.5(PM20D1):c.1399A>C (p.Asn467His)	PM20D1 (N467H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2410905	NM_152491.5(PM20D1):c.1384C>T (p.Arg462Cys)	PM20D1 (R462C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2309065	NM_152491.5(PM20D1):c.1339A>T (p.Ile447Phe)	PM20D1 (I447F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2624097	NM_152491.5(PM20D1):c.1295T>C (p.Ile432Thr)	PM20D1 (I432T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2473653	NM_152491.5(PM20D1):c.1262C>T (p.Pro421Leu)	PM20D1 (P421L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 717694	NM_152491.5(PM20D1):c.1255G>A (p.Val419Ile)	PM20D1 (V419I)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2326626	NM_152491.5(PM20D1):c.1246G>A (p.Val416Ile)	PM20D1 (V416I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2485707	NM_152491.5(PM20D1):c.1205C>T (p.Ser402Phe)	PM20D1 (S402F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2294727	NM_152491.5(PM20D1):c.1195G>A (p.Val399Ile)	PM20D1 (V399I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 1297905	NM_152491.5(PM20D1):c.1139T>C (p.Ile380Thr)	PM20D1 (I380T)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2494282	NM_152491.5(PM20D1):c.1049A>G (p.Asn350Ser)	PM20D1 (N350S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2379411	NM_152491.5(PM20D1):c.1013C>A (p.Thr338Lys)	PM20D1 (T338K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2507445	NM_152491.5(PM20D1):c.824G>A (p.Ser275Asn)	PM20D1 (S275N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2250193	NM_152491.5(PM20D1):c.800T>C (p.Ile267Thr)	PM20D1 (I267T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2618993	NM_152491.5(PM20D1):c.775T>G (p.Ser259Ala)	PM20D1 (S259A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 782735	NM_152491.5(PM20D1):c.743T>C (p.Met248Thr)	PM20D1 (M248T)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2208381	NM_152491.5(PM20D1):c.703G>A (p.Ala235Thr)	PM20D1 (A235T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2304925	NM_152491.5(PM20D1):c.697C>T (p.Pro233Ser)	PM20D1 (P233S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2331930	NM_152491.5(PM20D1):c.670G>A (p.Asp224Asn)	PM20D1 (D224N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2293607	NM_152491.5(PM20D1):c.626G>A (p.Gly209Asp)	PM20D1 (G209D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2589293	NM_152491.5(PM20D1):c.472G>A (p.Asp158Asn)	PM20D1 (D158N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2305709	NM_152491.5(PM20D1):c.466C>G (p.Leu156Val)	PM20D1 (L156V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2394389	NM_152491.5(PM20D1):c.413T>A (p.Val138Glu)	PM20D1 (V138E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2380086	NM_152491.5(PM20D1):c.338C>T (p.Ser113Leu)	PM20D1 (S113L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2234156	NM_152491.5(PM20D1):c.302T>C (p.Val101Ala)	PM20D1 (V101A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2598091	NM_152491.5(PM20D1):c.238G>A (p.Gly80Arg)	PM20D1 (G80R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2639856	NM_152491.5(PM20D1):c.237C>T (p.Phe79=)	PM20D1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2532620	NM_152491.5(PM20D1):c.145G>C (p.Val49Leu)	PM20D1 (V49L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2553789	NM_152491.5(PM20D1):c.116T>A (p.Ile39Asn)	PM20D1 (I39N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2244160	NM_152491.5(PM20D1):c.16G>A (p.Val6Ile)	PM20D1 (V6I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2425293	NC_000001.10:g.(?_200522516)_(206945780_?)dup	ADIPOR1, ADORA1 +90 more	Duplication	Epilepsy, familial adult myoclonic, 5	GUncertain significance
Select item 2422293	NC_000001.10:g.(?_200522516)_(208391267_?)dup	C4BPA, FMOD +110 more	Duplication	not provided	GUncertain significance
Select item 1809264	GRCh37/hg19 1q25.3-32.3(chr1:181453460-213107248)x3	IGFN1, IKBKE +211 more	Copy number gain	not provided	GPathogenic
Select item 1708464	GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3	ABCB10, ACBD3 +381 more	Copy number gain	See cases	GPathogenic
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	KLHL12, LNCATV +956 more	Duplication	Paragangliomas 3 +2 more	GUncertain significance
Select item 972964	GRCh37/hg19 1q31.3-32.2(chr1:194356425-210988710)x3	CSRP1, PPFIA4 +145 more	Copy number gain	not provided	Gnot provided
Select item 816482	GRCh37/hg19 1q32.1-44(chr1:204045948-249218992)x3	C1orf35, C1orf74 +320 more	Copy number gain	See cases	GPathogenic
Select item 685144	GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3	CAPN9, CATSPERE +433 more	Copy number gain	not provided	GPathogenic
Select item 523270	GRCh37/hg19 1q32.1-32.3(chr1:204682513-212815646)	EIF2D, LPGAT1 +75 more	Copy number loss	Global developmental delay +2 more	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	PADI1, PADI2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	NID1, NIPAL3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 394081	GRCh37/hg19 1q31.3-44(chr1:195483439-249213000)x3	ABCB10, ACBD3 +393 more	Copy number gain	See cases	GPathogenic
Select item 253654	GRCh37/hg19 1q31.3-42.13(chr1:197811907-228997888)x3	ACBD3, ADIPOR1 +242 more	Copy number gain	See cases	GPathogenic

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Items: 47