ClinVar for Gene (Select 101928020) - ClinVar - NCBI

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Links from Gene

Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2550007	NM_152519.4(KANSL1L):c.2030T>C (p.Val677Ala)	KANSL1L, KANSL1L-AS1 (V677A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2547551	NM_152519.4(KANSL1L):c.1830T>A (p.Ser610Arg)	KANSL1L, KANSL1L-AS1 (S610R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2513892	NM_152519.4(KANSL1L):c.2050T>C (p.Trp684Arg)	KANSL1L, KANSL1L-AS1 (W684R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2310028	NM_152519.4(KANSL1L):c.1799T>A (p.Met600Lys)	KANSL1L-AS1, KANSL1L (M600K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2277372	NM_152519.4(KANSL1L):c.2119G>A (p.Gly707Arg)	KANSL1L-AS1, KANSL1L (G707R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 735231	NM_152519.4(KANSL1L):c.2040T>C (p.Thr680=)	KANSL1L, KANSL1L-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 155234	GRCh38/hg38 2q33.1-34(chr2:199937273-210031924)x1	ABI2, ADAM23 +298 more	Copy number loss	See cases	GPathogenic
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	ABCA12, ABCB6 +1687 more	Copy number gain	See cases	GPathogenic
Select item 152738	GRCh38/hg38 2q32.3-35(chr2:192938826-215705052)x1	FAM117B, FAM237A +509 more	Copy number loss	See cases	GPathogenic
Select item 150829	GRCh38/hg38 2q33.3-34(chr2:204906843-210031449)x1	ADAM23, C2orf80 +131 more	Copy number loss	See cases	GPathogenic
Select item 150620	GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3	LOC129935413, LOC129935414 +1097 more	Copy number gain	See cases	GPathogenic
Select item 150477	GRCh38/hg38 2q33.3-34(chr2:207058886-211245603)x1	KANSL1L, KANSL1L-AS1 +96 more	Copy number loss	See cases	GPathogenic
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	AAMP, ABCA12 +1665 more	Copy number gain	See cases	GPathogenic
Select item 59158	GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	AAMP, ABCA12 +1703 more	Copy number gain	See cases	GPathogenic
Select item 57419	GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3	LOC126806461, LOC126806467 +1299 more	Copy number gain	See cases	GPathogenic