ClinVar for Gene (Select 391004) - ClinVar

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Links from Gene

Items: 62

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3309677	NM_001099851.3(PRAMEF17):c.548A>G (p.Asn183Ser)	PRAMEF17 (N183S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3242274	GRCh37/hg19 1p36.32-36.12(chr1:4436802-22782007)x2	AADACL3, AADACL4 +207 more	Copy number loss	not provided	GPathogenic
Select item 3218183	NM_001099851.3(PRAMEF17):c.430C>T (p.His144Tyr)	PRAMEF17 (H144Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218182	NM_001099851.3(PRAMEF17):c.359G>A (p.Arg120Lys)	PRAMEF17 (R120K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218181	NM_001099851.3(PRAMEF17):c.1414C>G (p.Leu472Val)	PRAMEF17 (L472V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218180	NM_001099851.3(PRAMEF17):c.1367C>T (p.Pro456Leu)	PRAMEF17 (P456L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218178	NM_001099851.3(PRAMEF17):c.1172C>T (p.Thr391Met)	PRAMEF17 (T391M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	A2ML1-AS2, A3GALT2 +2151 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 2638286	NM_001099851.3(PRAMEF17):c.1095G>A (p.Gln365=)	PRAMEF17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2638285	NM_001099851.3(PRAMEF17):c.904C>G (p.His302Asp)	PRAMEF17 (H302D)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2638284	NM_001099851.3(PRAMEF17):c.901T>A (p.Cys301Ser)	PRAMEF17 (C301S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2617191	NM_001099851.3(PRAMEF17):c.1079A>G (p.Gln360Arg)	PRAMEF17 (Q360R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2614282	NM_001099851.3(PRAMEF17):c.388A>G (p.Ser130Gly)	PRAMEF17 (S130G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601248	NM_001099851.3(PRAMEF17):c.1106T>C (p.Leu369Pro)	PRAMEF17 (L369P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597763	NM_001099851.3(PRAMEF17):c.1156G>A (p.Gly386Arg)	PRAMEF17 (G386R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590816	NM_001099851.3(PRAMEF17):c.515A>G (p.His172Arg)	PRAMEF17 (H172R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553376	NM_001099851.3(PRAMEF17):c.1081A>G (p.Ile361Val)	PRAMEF17 (I361V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530901	NM_001099851.3(PRAMEF17):c.432C>G (p.His144Gln)	PRAMEF17 (H144Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518024	NM_001099851.3(PRAMEF17):c.317G>C (p.Arg106Pro)	PRAMEF17 (R106P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489552	NM_001099851.3(PRAMEF17):c.1100G>C (p.Arg367Thr)	PRAMEF17 (R367T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487618	NM_001099851.3(PRAMEF17):c.1232T>G (p.Leu411Trp)	PRAMEF17 (L411W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480642	NM_001099851.3(PRAMEF17):c.617G>A (p.Ser206Asn)	PRAMEF17 (S206N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2465633	NM_001099851.3(PRAMEF17):c.422C>T (p.Thr141Met)	PRAMEF17 (T141M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2446820	NC_000001.10:g.4481271_20530242del	NOL9, TNFRSF1B +184 more	Deletion	Chromosome 1p36 deletion syndrome	GPathogenic
Select item 2388778	NM_001099851.3(PRAMEF17):c.962A>G (p.Gln321Arg)	PRAMEF17 (Q321R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375392	NM_001099851.3(PRAMEF17):c.316C>T (p.Arg106Trp)	PRAMEF17 (R106W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365816	NM_001099851.3(PRAMEF17):c.916G>A (p.Ala306Thr)	PRAMEF17 (A306T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355187	NM_001099851.3(PRAMEF17):c.409G>A (p.Asp137Asn)	PRAMEF17 (D137N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355186	NM_001099851.3(PRAMEF17):c.1396G>C (p.Glu466Gln)	PRAMEF17 (E466Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351057	NM_001099851.3(PRAMEF17):c.923A>G (p.Gln308Arg)	PRAMEF17 (Q308R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2347775	NM_001099851.3(PRAMEF17):c.869G>A (p.Cys290Tyr)	PRAMEF17 (C290Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347528	NM_001099851.3(PRAMEF17):c.1243C>A (p.Pro415Thr)	PRAMEF17 (P415T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2336792	NM_001099851.3(PRAMEF17):c.389G>A (p.Ser130Asn)	PRAMEF17 (S130N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251288	NM_001099851.3(PRAMEF17):c.1315T>C (p.Cys439Arg)	PRAMEF17 (C439R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2234057	NM_001099851.3(PRAMEF17):c.1064C>G (p.Thr355Arg)	PRAMEF17 (T355R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211346	NM_001099851.3(PRAMEF17):c.1121G>T (p.Ser374Ile)	PRAMEF17 (S374I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207433	NM_001099851.3(PRAMEF17):c.505A>G (p.Arg169Gly)	PRAMEF17 (R169G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1808934	GRCh37/hg19 1p36.31-36.13(chr1:6758933-19287770)x1	AADACL3, AADACL4 +143 more	Copy number loss	not provided	GPathogenic
Select item 1707471	NC_000001.11:g.10115497_16283149dup	LOC110120623, LOC110120648 +361 more	Duplication	not specified	GLikely pathogenic
Select item 1340028	GRCh37/hg19 1p36.33-36.13(chr1:849466-17525065)x1	AJAP1, KAZN +228 more	Copy number loss	not provided	GPathogenic
Select item 814057	GRCh37/hg19 1p36.21(chr1:13709328-13948225)x3	PRAMEF20, PDPN +2 more	Copy number gain	not provided	GLikely benign
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	AGL, AGMAT +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 443150	GRCh37/hg19 1p36.22-36.21(chr1:10722725-14267773)x1	AADACL3, AADACL4 +53 more	Copy number loss	See cases	GLikely pathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 441913	GRCh37/hg19 1p36.23-36.13(chr1:8850514-16272383)x1	AADACL3, AADACL4 +97 more	Copy number loss	See cases	GLikely pathogenic
Select item 253459	GRCh37/hg19 1p36.33-36.21(chr1:746608-15077159)x1	CCNL2, CDK11A +188 more	Copy number loss	See cases	GPathogenic
Select item 221357	chr1:909238-16736132 complex variant	RER1, RERE +212 more	Complex	Breast ductal adenocarcinoma	GUncertain significance
Select item 221334	Single allele	IGSF21, IL22RA1 +314 more	Complex	Breast ductal adenocarcinoma	GUncertain significance
Select item 154839	GRCh38/hg38 1p36.31-36.13(chr1:6554885-16056011)x3	AADACL3, AADACL4 +563 more	Copy number gain	See cases	GPathogenic
Select item 154704	GRCh38/hg38 1p36.31-36.13(chr1:5363826-18360302)x1	PLOD1, PRAMEF1 +730 more	Copy number loss	See cases	GPathogenic
Select item 153434	GRCh38/hg38 1p36.22-36.21(chr1:11021751-15236671)x3	AADACL3, AADACL4 +209 more	Copy number gain	See cases	GLikely pathogenic
Select item 152937	GRCh38/hg38 1p36.22-36.21(chr1:10264397-15780840)x1	AADACL3, AADACL4 +304 more	Copy number loss	See cases	GPathogenic
Select item 152293	GRCh38/hg38 1p36.22-36.21(chr1:9428538-15815791)x1	AADACL3, AADACL4 +370 more	Copy number loss	See cases	GPathogenic
Select item 148967	GRCh38/hg38 1p36.21(chr1:12627415-13993978)x3	AADACL3, AADACL4 +49 more	Copy number gain	See cases	GLikely pathogenic
Select item 148885	GRCh38/hg38 1p36.31-36.21(chr1:6303641-15799093)x1	LOC129929327, LOC129929328 +557 more	Copy number loss	See cases	GPathogenic
Select item 148652	GRCh38/hg38 1p36.21-36.13(chr1:12724785-16034788)x1	AADACL3, AGMAT +151 more	Copy number loss	See cases	GPathogenic
Select item 59895	GRCh38/hg38 1p36.22-36.13(chr1:11121625-16324498)x1	AADACL3, AADACL4 +288 more	Copy number loss	See cases	GPathogenic
Select item 59894	GRCh38/hg38 1p36.22-36.13(chr1:10809039-16422500)x1	LOC112577504, LOC112577505 +316 more	Copy number loss	See cases	GPathogenic
Select item 59892	GRCh38/hg38 1p36.22-36.13(chr1:10621776-16520709)x1	AADACL3, AADACL4 +337 more	Copy number loss	See cases	GPathogenic
Select item 59885	GRCh38/hg38 1p36.23-36.13(chr1:9034671-16441465)x1	AADACL3, AADACL4 +462 more	Copy number loss	See cases	GPathogenic
Select item 59846	GRCh38/hg38 1p36.32-36.13(chr1:3006193-17688934)x1	LINC02783, LINC03126 +804 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 62