ClinVar for Gene (Select 85509) - ClinVar

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Links from Gene

Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3293506	NM_001393532.1(MBD3L1):c.76A>G (p.Ile26Val)	MBD3L1 (I26V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124040	NM_001393532.1(MBD3L1):c.482T>C (p.Val161Ala)	MBD3L1 (V161A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124038	NM_001393532.1(MBD3L1):c.317T>C (p.Leu106Pro)	MBD3L1 (L106P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3124037	NM_001393532.1(MBD3L1):c.119C>T (p.Thr40Met)	MBD3L1 (T40M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2684883	GRCh37/hg19 19p13.2(chr19:8680064-9034843)x3	ACTL9, MBD3L1 +3 more	Copy number gain	not provided	GUncertain significance
Select item 2595730	NM_001393532.1(MBD3L1):c.61G>C (p.Gly21Arg)	MBD3L1 (G21R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546434	NM_001393532.1(MBD3L1):c.187C>G (p.Gln63Glu)	MBD3L1 (Q63E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458704	NM_001393532.1(MBD3L1):c.214C>A (p.Gln72Lys)	MBD3L1 (Q72K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345936	NM_001393532.1(MBD3L1):c.571C>A (p.Pro191Thr)	MBD3L1 (P191T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343033	NM_001393532.1(MBD3L1):c.580C>T (p.Arg194Cys)	MBD3L1 (R194C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267769	NM_001393532.1(MBD3L1):c.107A>C (p.Lys36Thr)	MBD3L1 (K36T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214897	NM_001393532.1(MBD3L1):c.251C>T (p.Ser84Leu)	MBD3L1 (S84L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 980198	GRCh37/hg19 19p13.2(chr19:8680063-9273676)x3	ACTL9, MBD3L1 +8 more	Copy number gain	not provided	GUncertain significance
Select item 980197	GRCh37/hg19 19p13.2(chr19:8518395-10053298)x3	OR7E24, OR7G1 +31 more	Copy number gain	not provided	GUncertain significance
Select item 564607	GRCh37/hg19 19p13.3-13.2(chr19:3120160-9732820)x3	ACER1, ACSBG2 +165 more	Copy number gain	not provided	GPathogenic
Select item 545228	Single allele	ZNF562, ZNF699 +132 more	Duplication	Autism	GLikely pathogenic
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 221397	GRCh37/hg19 19p13.2(chr19:8661944-10104083)x1	ACTL9, ADAMTS10 +28 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 59110	GRCh38/hg38 19p13.2-13.13(chr19:8831147-13331227)x3	LOC126862863, LOC126862864 +536 more	Copy number gain	See cases	GLikely pathogenic
Select item 59082	GRCh38/hg38 19p13.3-13.2(chr19:1972245-9648879)x3	LOC130063254, LOC130063255 +810 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 21