ASB8[gene] - ClinVar

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Items: 28

	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 3130208	NM_024095.5(ASB8):c.832G>C (p.Ala278Pro)	ASB8 (A217P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2556374	NM_024095.5(ASB8):c.791T>C (p.Leu264Pro)	ASB8 (L203P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3130207	NM_024095.5(ASB8):c.779G>C (p.Arg260Pro)	ASB8 (R199P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3130206	NM_024095.5(ASB8):c.772G>T (p.Val258Leu)	ASB8 (V258L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2308335	NM_024095.5(ASB8):c.763C>T (p.Arg255Cys)	ASB8 (R194C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2378171	NM_024095.5(ASB8):c.760G>A (p.Ala254Thr)	ASB8 (A254T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2271006	NM_024095.5(ASB8):c.602C>A (p.Thr201Lys)	ASB8 (T201K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2297980	NM_024095.5(ASB8):c.599G>C (p.Gly200Ala)	ASB8 (G139A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2466876	NM_024095.5(ASB8):c.569G>A (p.Arg190His)	ASB8 (R190H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3130205	NM_024095.5(ASB8):c.496A>T (p.Ser166Cys)	ASB8 (S166C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2540860	NM_024095.5(ASB8):c.442G>T (p.Asp148Tyr)	ASB8 (D87Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2390902	NM_024095.5(ASB8):c.404G>A (p.Arg135Gln)	ASB8 (R135Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2481537	NM_024095.5(ASB8):c.374C>A (p.Ala125Glu)	ASB8 (A125E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2613893	NM_024095.5(ASB8):c.329A>G (p.Asn110Ser)	ASB8 (N110S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2241245	NM_024095.5(ASB8):c.202T>C (p.Cys68Arg)	ASB8 (C7R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296959	NM_024095.5(ASB8):c.154G>T (p.Gly52Cys)	ASB8 (G52C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2317339	NM_024095.5(ASB8):c.136G>T (p.Asp46Tyr)	ASB8 (D46Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2360985	NM_024095.5(ASB8):c.127G>C (p.Gly43Arg)	ASB8 (G43R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1809473	GRCh37/hg19 12q13.11(chr12:48380031-48542853)x3	ASB8, COL2A1 +2 more	Copy number gain	not provided	GUncertain significance
Select item 1710515	GRCh37/hg19 12q12-13.11(chr12:44661149-48921204)x1	AMIGO2, ANO6 +27 more	Copy number loss	not provided	GPathogenic
Select item 1527702	GRCh37/hg19 12q11-13.12(chr12:37857750-49791459)	ABCD2, ADAMTS20 +72 more	Copy number gain	not specified	GPathogenic
Select item 1048618	GRCh37/hg19 12q11-13.12(chr12:37873948-49578619)x3	PPHLN1, PRICKLE1 +66 more	Copy number gain	See cases	GLikely pathogenic
Select item 524190	NC_000012.11:g.26370251_54361538inv	AAAS, ABCD2 +212 more	Inversion	not specified	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 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	AGAP2, ARF3 +1007 more	Copy number gain	See cases	GPathogenic
Select item 221992	GRCh37/hg19 12p11.21-q13.12(chr12:31886971-50360461)x3	ABCD2, ADAMTS20 +92 more	Copy number gain	See cases	GPathogenic

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Items: 28