55731[Gene ID] - ClinVar

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Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 147274	GRCh38/hg38 17q11.2(chr17:28283125-28904397)x3	ALDOC, BLTP2 +88 more	Copy number gain	See cases	GBenign
Select item 154383	GRCh38/hg38 17q11.2(chr17:28757283-29216419)x3	DHRS13, ERAL1 +39 more	Copy number gain	See cases	GUncertain significance
Select item 2314719	NM_001077498.3(FAM222B):c.1650G>C (p.Glu550Asp)	FAM222B (E422D +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 791455	NM_001077498.3(FAM222B):c.1638C>T (p.Pro546=)	FAM222B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2385561	NM_001077498.3(FAM222B):c.1636C>T (p.Pro546Ser)	FAM222B (P418S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 780419	NM_001077498.3(FAM222B):c.1624G>A (p.Gly542Ser)	FAM222B (G414S +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3092328	NM_001077498.3(FAM222B):c.1580G>A (p.Arg527Gln)	FAM222B (R399Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337125	NM_001077498.3(FAM222B):c.1535A>C (p.Gln512Pro)	FAM222B (Q512P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536514	NM_001077498.3(FAM222B):c.1520A>G (p.Gln507Arg)	FAM222B (Q379R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520104	NM_001077498.3(FAM222B):c.1474G>A (p.Gly492Arg)	FAM222B (G364R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267808	NM_001077498.3(FAM222B):c.1432G>T (p.Gly478Trp)	FAM222B (G478W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277392	NM_001077498.3(FAM222B):c.1355C>A (p.Pro452His)	FAM222B (P452H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092327	NM_001077498.3(FAM222B):c.1337A>G (p.Asn446Ser)	FAM222B (N318S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302238	NM_001077498.3(FAM222B):c.1286C>T (p.Pro429Leu)	FAM222B (P301L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378337	NM_001077498.3(FAM222B):c.1250C>T (p.Ala417Val)	FAM222B (A289V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277395	NM_001077498.3(FAM222B):c.1187G>A (p.Arg396His)	FAM222B (R396H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461279	NM_001077498.3(FAM222B):c.1186C>T (p.Arg396Cys)	FAM222B (R268C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277391	NM_001077498.3(FAM222B):c.1075G>A (p.Asp359Asn)	FAM222B (D231N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237998	NM_001077498.3(FAM222B):c.1033C>A (p.Leu345Met)	FAM222B (L347M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601542	NM_001077498.3(FAM222B):c.1003G>A (p.Ala335Thr)	FAM222B (A207T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092334	NM_001077498.3(FAM222B):c.995C>T (p.Ala332Val)	FAM222B (A204V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092333	NM_001077498.3(FAM222B):c.925C>T (p.Arg309Trp)	FAM222B (R311W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215685	NM_001077498.3(FAM222B):c.899G>A (p.Arg300His)	FAM222B (R300H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490380	NM_001077498.3(FAM222B):c.805G>T (p.Val269Leu)	FAM222B (V271L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092331	NM_001077498.3(FAM222B):c.622T>G (p.Leu208Val)	FAM222B (L210V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457639	NM_001077498.3(FAM222B):c.619G>A (p.Gly207Ser)	FAM222B (G209S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397877	NM_001077498.3(FAM222B):c.581A>T (p.Gln194Leu)	FAM222B (Q66L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092330	NM_001077498.3(FAM222B):c.433G>C (p.Ala145Pro)	FAM222B (A17P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338193	NM_001077498.3(FAM222B):c.425G>A (p.Ser142Asn)	FAM222B (S142N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277393	NM_001077498.3(FAM222B):c.422C>T (p.Pro141Leu)	FAM222B (P13L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092329	NM_001077498.3(FAM222B):c.326C>G (p.Ala109Gly)	FAM222B (A111G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2275128	NM_001077498.3(FAM222B):c.316A>G (p.Lys106Glu)	FAM222B (K106E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2252482	NM_001077498.3(FAM222B):c.247A>G (p.Thr83Ala)	FAM222B (T83A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3277390	NM_001077498.3(FAM222B):c.211C>T (p.Arg71Trp)	FAM222B (R73W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3277396	NM_001077498.3(FAM222B):c.17C>T (p.Pro6Leu)	FAM222B (P6L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3277394	NM_001077498.3(FAM222B):c.14T>C (p.Leu5Pro)	FAM222B (L5P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3092332	NM_001077498.3(FAM222B):c.7G>A (p.Ala3Thr)	FAM222B (A3T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2580348	GRCh37/hg19 17q11.1-11.2(chr17:25263507-27829791)x3	FAM222B, FLOT2 +41 more	Copy number gain	Developmental delay with or without intellectual impairment or behavioral abnormalities	GUncertain significance
Select item 2427184	NC_000017.10:g.(?_26684694)_(29701173_?)dup	ABHD15, ADAP2 +54 more	Duplication	not provided	GUncertain significance
Select item 2425303	NC_000017.10:g.(?_26684694)_(27581367_?)dup	ALDOC, BLTP2 +29 more	Duplication	not provided	GUncertain significance
Select item 1526572	GRCh37/hg19 17p11.2-q11.2(chr17:21690653-28281232)	ABHD15, ALDOC +49 more	Copy number gain	not specified	GPathogenic
Select item 815920	GRCh37/hg19 17q11.1-11.2(chr17:25274363-28450707)x3	ABHD15, ALDOC +49 more	Copy number gain	not provided	GPathogenic
Select item 686144	GRCh37/hg19 17p11.2-q21.2(chr17:21690653-38772647)x3	AATF, ABHD15 +201 more	Copy number gain	not provided	GPathogenic
Select item 624545	GRCh37/hg19 17q11.1-11.2(chr17:25403446-31685464)x3	ABHD15, ADAP2 +80 more	Copy number gain	not provided	GLikely pathogenic
Select item 523166	GRCh37/hg19 17q11.1-11.2(chr17:25248166-30645676)x1	LYRM9, MIR144 +72 more	Copy number loss	Mitogen-activated protein kinase kinase inhibitor response	Gdrug response
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

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Items: 47