ClinVar for Gene (Select 27346) - ClinVar - NCBI

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Links from Gene

Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3179765	NM_014573.3(TMEM97):c.419G>A (p.Arg140Gln)	TMEM97 (R140Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179764	NM_014573.3(TMEM97):c.411G>C (p.Leu137Phe)	TMEM97 (L137F)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3179763	NM_014573.3(TMEM97):c.107G>T (p.Arg36Leu)	TMEM97 (R36L)	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 2557298	NM_014573.3(TMEM97):c.179A>G (p.Gln60Arg)	TMEM97 (Q60R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531786	NM_014573.3(TMEM97):c.364G>A (p.Asp122Asn)	TMEM97 (D122N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479504	NM_014573.3(TMEM97):c.147G>C (p.Trp49Cys)	TMEM97 (W49C)	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	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 253865	GRCh37/hg19 17p11.2-q11.2(chr17:21308559-26655801)x3	MTRNR2L1, TMEM97 +9 more	Copy number gain	See cases	GUncertain significance
Select item 147274	GRCh38/hg38 17q11.2(chr17:28283125-28904397)x3	ALDOC, BLTP2 +88 more	Copy number gain	See cases	GBenign