C11orf97[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144356	GRCh38/hg38 11q13.5-22.1(chr11:75941754-98357960)x1	AAMDC, ACER3 +474 more	Copy number loss	See cases	GPathogenic
Select item 58918	GRCh38/hg38 11q14.1-22.3(chr11:78232836-106779420)x1	LINC02553, LINC02700 +528 more	Copy number loss	See cases	GPathogenic
Select item 58919	GRCh38/hg38 11q14.1-22.2(chr11:85242847-102920097)x1	LOC101929174, LOC102723838 +378 more	Copy number loss	See cases	GPathogenic
Select item 148976	GRCh38/hg38 11q14.3-22.3(chr11:91086659-109595582)x1	LOC130006596, LOC130006597 +387 more	Copy number loss	See cases	GPathogenic
Select item 145480	GRCh38/hg38 11q21(chr11:94324282-96081666)x3	AMOTL1, ANKRD49 +57 more	Copy number gain	See cases	GUncertain significance
Select item 3135665	NM_001190462.2(C11orf97):c.64G>A (p.Glu22Lys)	C11orf97 (E22K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219013	NM_001190462.2(C11orf97):c.100G>A (p.Ala34Thr)	C11orf97 (A34T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344081	NM_001190462.2(C11orf97):c.124C>T (p.Pro42Ser)	C11orf97 (P42S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242577	NM_001190462.2(C11orf97):c.370C>T (p.Leu124Phe)	C11orf97 (L124F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

ClinVar