ClinVar for Gene (Select 116238) - ClinVar

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Links from Gene

Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3177734	NM_138463.4(TLCD1):c.679C>A (p.Arg227Ser)	TLCD1 (R180S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177733	NM_138463.4(TLCD1):c.421A>C (p.Thr141Pro)	TLCD1 (T94P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177732	NM_138463.4(TLCD1):c.307G>A (p.Val103Met)	TLCD1 (V103M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177731	NM_138463.4(TLCD1):c.187C>G (p.Leu63Val)	TLCD1 (L63V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3177730	NM_138463.4(TLCD1):c.125C>G (p.Thr42Ser)	TLCD1 (T42S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2623408	NM_138463.4(TLCD1):c.293A>C (p.Asp98Ala)	TLCD1 (D51A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591803	NM_138463.4(TLCD1):c.406G>A (p.Gly136Ser)	TLCD1 (G136S +1 more)	Single nucleotide variant (missense variant)	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 2552767	NM_138463.4(TLCD1):c.391T>C (p.Trp131Arg)	TLCD1 (W131R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534816	NM_138463.4(TLCD1):c.388T>G (p.Phe130Val)	TLCD1 (F83V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523910	NM_138463.4(TLCD1):c.40G>A (p.Gly14Ser)	TLCD1 (G14S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2510867	NM_138463.4(TLCD1):c.79T>C (p.Cys27Arg)	TLCD1 (C27R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2475215	NM_138463.4(TLCD1):c.445A>G (p.Ile149Val)	TLCD1 (I102V +1 more)	Single nucleotide variant (missense variant)	not specified	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	RAB34, RPL23A +29 more	Duplication	not provided	GUncertain significance
Select item 2411965	NM_001160407.2(TLCD1):c.35G>T (p.Arg12Leu)	TLCD1 (R12L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410396	NM_138463.4(TLCD1):c.296C>T (p.Thr99Met)	TLCD1 (T52M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389916	NM_138463.4(TLCD1):c.74C>T (p.Ala25Val)	TLCD1 (A25V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2388222	NM_138463.4(TLCD1):c.676C>A (p.Leu226Ile)	TLCD1 (L179I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347359	NM_001160407.2(TLCD1):c.52A>C (p.Ser18Arg)	TLCD1 (S18R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338415	NM_138463.4(TLCD1):c.335G>C (p.Trp112Ser)	TLCD1 (W65S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222134	NM_138463.4(TLCD1):c.451C>T (p.Leu151Phe)	TLCD1 (L151F +1 more)	Single nucleotide variant (missense variant)	not specified	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	EFTUD2, EIF1 +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	KRT15, KRT16 +1143 more	Copy number gain	See cases	GPathogenic
Select item 147274	GRCh38/hg38 17q11.2(chr17:28283125-28904397)x3	ALDOC, BLTP2 +88 more	Copy number gain	See cases	GBenign

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Links from Gene

Items: 30