24785[HGNC] - ClinVar

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Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 59114	GRCh38/hg38 19p13.12-q11(chr19:13974677-27839676)x3	ABHD8, ADGRE2 +695 more	Copy number gain	See cases	GPathogenic
Select item 147522	GRCh38/hg38 19p13.12-12(chr19:15133594-24193591)x3	ABHD8, AKAP8 +574 more	Copy number gain	See cases	GPathogenic
Select item 57042	GRCh38/hg38 19p13.11-q13.11(chr19:17176767-34924150)x3	LOC130064154, LOC130064155 +625 more	Copy number gain	See cases	GPathogenic
Select item 2285660	NM_198537.4(YJEFN3):c.25C>G (p.Pro9Ala)	YJEFN3 (P9A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333688	NM_198537.4(YJEFN3):c.35C>T (p.Ala12Val)	YJEFN3 (A12V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191537	NM_198537.4(YJEFN3):c.45G>T (p.Glu15Asp)	YJEFN3 (E15D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191538	NM_198537.4(YJEFN3):c.47G>T (p.Arg16Leu)	YJEFN3 (R16L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622190	NM_198537.4(YJEFN3):c.79C>T (p.Pro27Ser)	YJEFN3 (P27S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2213266	NM_198537.4(YJEFN3):c.88G>A (p.Asp30Asn)	YJEFN3 (D30N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2482242	NM_198537.4(YJEFN3):c.130C>T (p.Leu44Phe)	YJEFN3 (L44F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2488083	NM_198537.4(YJEFN3):c.152C>T (p.Ala51Val)	YJEFN3 (A51V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2458519	NM_198537.4(YJEFN3):c.206A>G (p.Gln69Arg)	YJEFN3 (Q69R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2273602	NM_198537.4(YJEFN3):c.212C>T (p.Thr71Ile)	YJEFN3 (T21I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191536	NM_198537.4(YJEFN3):c.289G>C (p.Gly97Arg)	YJEFN3 (G47R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347273	NM_198537.4(YJEFN3):c.326C>T (p.Pro109Leu)	YJEFN3 (P59L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318459	NM_198537.4(YJEFN3):c.449T>G (p.Phe150Cys)	YJEFN3 (F100C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388966	NM_198537.4(YJEFN3):c.460C>T (p.Arg154Cys)	YJEFN3 (R104C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398429	NM_198537.4(YJEFN3):c.482G>A (p.Arg161Gln)	YJEFN3 (R111Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215124	NM_198537.4(YJEFN3):c.501C>G (p.Cys167Trp)	YJEFN3 (C117W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522570	NM_198537.4(YJEFN3):c.502G>A (p.Glu168Lys)	YJEFN3 (E118K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235634	NM_198537.4(YJEFN3):c.562G>A (p.Ala188Thr)	YJEFN3 (A138T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274303	NM_198537.4(YJEFN3):c.569G>C (p.Gly190Ala)	YJEFN3 (G190A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333690	NM_198537.4(YJEFN3):c.572T>C (p.Leu191Pro)	YJEFN3 (L141P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191539	NM_198537.4(YJEFN3):c.598G>A (p.Gly200Ser)	YJEFN3 (G200S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191540	NM_198537.4(YJEFN3):c.623G>A (p.Gly208Asp)	YJEFN3 (G158D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2649610	NM_198537.4(YJEFN3):c.647C>G (p.Thr216Arg)	YJEFN3 (T166R +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2341066	NM_198537.4(YJEFN3):c.703G>C (p.Ala235Pro)	YJEFN3 (A185P +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2247641	NM_198537.4(YJEFN3):c.776G>T (p.Cys259Phe)	YJEFN3 (C209F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191541	NM_198537.4(YJEFN3):c.842G>T (p.Arg281Leu)	YJEFN3 (R281L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333689	NM_198537.4(YJEFN3):c.890C>T (p.Ala297Val)	YJEFN3 (A247V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062380	GRCh37/hg19 19p13.11-12(chr19:18926463-21100330)x1	ARMC6, ATP13A1 +36 more	Copy number loss	not specified	GUncertain significance
Select item 1330177	GRCh37/hg19 19p13.11-q13.2(chr19:19546923-41313229)x3	ACP7, ACTMAP +255 more	Copy number gain	Specific learning disability	GPathogenic
Select item 980194	GRCh37/hg19 19p13.12-12(chr19:14286624-20956753)x3	BST2, NWD1 +158 more	Copy number gain	not provided	GPathogenic
Select item 688889	GRCh37/hg19 19p13.11(chr19:19560981-19962412)x3	ATP13A1, CILP2 +10 more	Copy number gain	not provided	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
Select item 395371	GRCh37/hg19 19p13.11(chr19:19644501-19657440)x3	CILP2, YJEFN3	Copy number gain	See cases	GUncertain significance
Select item 221350	chr19:19230868-24115369 complex variant	ATP13A1, BORCS8 +49 more	Complex	Breast ductal adenocarcinoma	GUncertain significance

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Items: 39