KICS2[gene] - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC130008916, LOC130008917 +4836 more	Copy number gain	See cases	GPathogenic
Select item 150076	GRCh38/hg38 12q14.1-14.3(chr12:60907151-66568077)x1	AVPR1A, C12orf56 +144 more	Copy number loss	See cases	GPathogenic
Select item 3235055	GRCh38/hg38 12q14.2-15(chr12:63871239-67314524)	LOC124629394, LOC124629395 +108 more	Copy number loss	Silver-Russell syndrome 5	GUncertain significance
Select item 790663	NM_152440.5(KICS2):c.1276G>C (p.Val426Leu)	KICS2 (V373L +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 790664	NM_152440.5(KICS2):c.1065C>T (p.Asp355=)	KICS2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 776729	NM_152440.5(KICS2):c.417A>G (p.Ile139Met)	KICS2 (I139M +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3114368	NM_152440.5(KICS2):c.352G>A (p.Val118Met)	KICS2 (V118M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2643161	NM_152440.5(KICS2):c.207C>G (p.His69Gln)	KICS2, LOC130008198 (H69Q)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2685437	GRCh37/hg19 12q14.1-15(chr12:61755618-70035424)x1	AVPR1A, C12orf56 +40 more	Copy number loss	not provided	GPathogenic
Select item 1879249	GRCh37/hg19 12q14.2-15(chr12:64609458-70352103)x1	YEATS4, C12orf56 +34 more	Copy number loss	not provided	GPathogenic
Select item 832933	NC_000012.12:g.(?_63779951)_(64501391_?)dup	C12orf56, XPOT +4 more	Duplication	not provided	GUncertain significance
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	DBX2, DCD +1006 more	Copy number gain	See cases	GPathogenic
Select item 394395	GRCh37/hg19 12q14.2(chr12:64581262-64632720)x3	KICS2	Copy number gain	See cases	GUncertain significance
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	AGAP2, ARF3 +1007 more	Copy number gain	See cases	GPathogenic