ClinVar for Gene (Select 56985) - ClinVar

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Links from Gene

Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3273646	NM_020233.5(ADPRM):c.105T>A (p.Phe35Leu)	ADPRM (F35L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273635	NM_020233.5(ADPRM):c.124C>T (p.Arg42Trp)	ADPRM (R42W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090370	NM_020233.5(ADPRM):c.856G>A (p.Glu286Lys)	ADPRM (E286K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090364	NM_020233.5(ADPRM):c.823T>A (p.Phe275Ile)	ADPRM (F275I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090359	NM_020233.5(ADPRM):c.746C>G (p.Ser249Cys)	ADPRM (S249C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090348	NM_020233.5(ADPRM):c.240T>A (p.Asn80Lys)	ADPRM (N80K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090342	NM_020233.5(ADPRM):c.153C>A (p.His51Gln)	ADPRM (H51Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063486	GRCh37/hg19 17p13.3-11.2(chr17:525-21510992)x3	ABR, ACADVL +329 more	Copy number gain	not specified	GPathogenic
Select item 2605582	NM_020233.5(ADPRM):c.217G>A (p.Gly73Arg)	ADPRM (G73R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2579287	GRCh38/hg38 17p13.3-12(chr17:165730-11404096)x3	SAT2, SCARF1 +911 more	Copy number gain	Chromosome 17p13.3 duplication syndrome	GPathogenic
Select item 2536568	NM_020233.5(ADPRM):c.802C>G (p.His268Asp)	ADPRM (H268D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532415	NM_020233.5(ADPRM):c.974G>A (p.Gly325Asp)	ADPRM (G325D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518918	NM_020233.5(ADPRM):c.13C>T (p.Pro5Ser)	ADPRM (P5S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456511	NM_020233.5(ADPRM):c.46C>T (p.Arg16Cys)	ADPRM (R16C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365468	NM_020233.5(ADPRM):c.742G>A (p.Ala248Thr)	ADPRM (A248T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363691	NM_020233.5(ADPRM):c.971G>A (p.Arg324Lys)	ADPRM (R324K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269628	NM_020233.5(ADPRM):c.256T>C (p.Ser86Pro)	ADPRM (S86P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1807888	GRCh37/hg19 17p13.1-12(chr17:10517286-10814075)x3	ADPRM, MYH3 +3 more	Copy number gain	not provided	GUncertain significance
Select item 1272930	NC_000017.11:g.10697743G>C	ADPRM, LOC112529895 +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258787	NC_000017.11:g.10697816_10697817insG	LOC112529895, SCO1 +1 more	Insertion (intron variant)	not provided	GBenign
Select item 1240455	NC_000017.11:g.10697654G>A	ADPRM, LOC112529895 +1 more	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1237522	NC_000017.11:g.10697598G>A	ADPRM, LOC112529895 +1 more	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1223633	NC_000017.11:g.10697803C>T	LOC112529895, ADPRM +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1213105	NC_000017.11:g.10697719T>G	ADPRM, LOC112529895 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 929830	GRCh37/hg19 17p13.1-12(chr17:10493837-15099023)x1	ADPRM, ARHGAP44 +14 more	Copy number loss	See cases	GUncertain significance
Select item 688631	GRCh37/hg19 17p13.1-12(chr17:10604119-10744366)x1	ADPRM, PIRT +1 more	Copy number loss	not provided	GUncertain significance
Select item 564377	GRCh37/hg19 17p13.3-12(chr17:525-11186432)x3	ABR, ACADVL +240 more	Copy number gain	not provided	GPathogenic
Select item 443659	GRCh37/hg19 17p13.3-12(chr17:525-15027737)x3	ABR, ACADVL +250 more	Copy number gain	See cases	GPathogenic
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +1143 more	Copy number gain	See cases	GPathogenic
Select item 394496	GRCh37/hg19 17p13.1(chr17:10583805-10633471)x1	ADPRM, SCO1 +1 more	Copy number loss	See cases	GUncertain significance
Select item 221395	GRCh38/hg38 17p13.1-12(chr17:9701182-11983353)x1	ADPRM, DHRS7C +57 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 221346	Single allele	ADORA2B, ADPRM +41 more	Complex	Breast ductal adenocarcinoma	GUncertain significance
Select item 154089	GRCh38/hg38 17p13.3-12(chr17:150732-14764202)x3	ABR, ABR-AS1 +962 more	Copy number gain	See cases	GPathogenic
Select item 150528	GRCh38/hg38 17p13.1-12(chr17:10334509-10900316)x1	ADPRM, LOC112529895 +25 more	Copy number loss	See cases	GPathogenic
Select item 149531	GRCh38/hg38 17p13.3-12(chr17:162016-12343901)x3	LOC130059883, LOC130059884 +922 more	Copy number gain	See cases	GPathogenic
Select item 145484	GRCh38/hg38 17p13.2-12(chr17:5732953-12095349)x3	ACADVL, ACAP1 +461 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 37