MAU2[gene] - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 59114	GRCh38/hg38 19p13.12-q11(chr19:13974677-27839676)x3	ABHD8, ADGRE2 +695 more	Copy number gain	See cases	GPathogenic
Select item 147522	GRCh38/hg38 19p13.12-12(chr19:15133594-24193591)x3	ABHD8, AKAP8 +574 more	Copy number gain	See cases	GPathogenic
Select item 57042	GRCh38/hg38 19p13.11-q13.11(chr19:17176767-34924150)x3	LOC130064154, LOC130064155 +625 more	Copy number gain	See cases	GPathogenic
Select item 771929	NM_015329.4(MAU2):c.33_47del (p.8_12AAQAA[1])	MAU2	Deletion (inframe_deletion)	not provided	GBenign
Select item 2293416	NM_015329.4(MAU2):c.32C>G (p.Ala11Gly)	MAU2 (A11G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123995	NM_015329.4(MAU2):c.187A>C (p.Ile63Leu)	MAU2 (I63L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623159	NM_015329.4(MAU2):c.187A>T (p.Ile63Phe)	MAU2 (I63F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529638	NM_015329.4(MAU2):c.277T>C (p.Trp93Arg)	LOC126862880, MAU2 (W93R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1299449	NM_015329.4(MAU2):c.432dup (p.Cys145fs)	MAU2 (C145fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 2429952	NM_015329.4(MAU2):c.744C>G (p.Ser248Arg)	MAU2 (S248R)	Single nucleotide variant (missense variant)	Autism spectrum disorder	GLikely benign
Select item 2549626	NM_015329.4(MAU2):c.968T>G (p.Leu323Arg)	LOC130064058, MAU2 (L323R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293474	NM_015329.4(MAU2):c.1109C>A (p.Ser370Tyr)	MAU2 (S370Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2565536	NM_015329.4(MAU2):c.1109C>T (p.Ser370Phe)	MAU2 (S370F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293476	NM_015329.4(MAU2):c.1282C>T (p.Arg428Trp)	MAU2 (R428W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293475	NM_015329.4(MAU2):c.1439G>A (p.Arg480Gln)	MAU2 (R480Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123994	NM_015329.4(MAU2):c.1655G>T (p.Cys552Phe)	MAU2 (C552F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316088	NM_015329.4(MAU2):c.1762A>C (p.Ile588Leu)	MAU2 (I588L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3251174	NM_015329.4(MAU2):c.1767+5G>A	MAU2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2464923	NM_015329.4(MAU2):c.1789G>A (p.Val597Met)	MAU2 (V597M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062380	GRCh37/hg19 19p13.11-12(chr19:18926463-21100330)x1	ARMC6, ATP13A1 +36 more	Copy number loss	not specified	GUncertain significance
Select item 1809253	GRCh37/hg19 19p13.11(chr19:19218464-19494045)x3	BORCS8, HAPLN4 +9 more	Copy number gain	not provided	GUncertain significance
Select item 980194	GRCh37/hg19 19p13.12-12(chr19:14286624-20956753)x3	BST2, NWD1 +158 more	Copy number gain	not provided	GPathogenic
Select item 688890	GRCh37/hg19 19p13.11(chr19:19230490-19440304)x3	BORCS8, HAPLN4 +8 more	Copy number gain	not provided	GUncertain significance
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic
Select item 221350	chr19:19230868-24115369 complex variant	ATP13A1, BORCS8 +49 more	Complex	Breast ductal adenocarcinoma	GUncertain significance

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Items: 27