MALRD1[gene] - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155636	GRCh38/hg38 10p15.3-12.31(chr10:54086-19336980)x1	PROSER2-AS1, PRPF18 +680 more	Copy number loss	See cases	GPathogenic
Select item 59657	GRCh38/hg38 10p15.3-12.31(chr10:69261-19184047)x3	LOC126860819, LOC126860820 +680 more	Copy number gain	See cases	GPathogenic
Select item 149407	GRCh38/hg38 10p15.3-12.1(chr10:90205-26339978)x3	ACBD7, ACBD7-DCLRE1CP1 +837 more	Copy number gain	See cases	GPathogenic
Select item 152998	GRCh38/hg38 10p15.1-q11.22(chr10:4604734-48074662)x3	ABI1, ACBD5 +1221 more	Copy number gain	See cases	GBenign
Select item 148232	GRCh38/hg38 10p14-12.31(chr10:7428770-21587752)x1	ACBD7, ACBD7-DCLRE1CP1 +388 more	Copy number loss	See cases	GPathogenic
Select item 57884	GRCh38/hg38 10p12.33-12.31(chr10:18289967-19647340)x3	ARL5B, CACNB2 +10 more	Copy number gain	See cases	GUncertain significance
Select item 145891	GRCh38/hg38 10p12.31(chr10:18683628-19157661)x1	LOC126860874, LOC129390147 +1 more	Copy number loss	See cases	GLikely benign
Select item 150600	GRCh38/hg38 10p12.31-11.22(chr10:19088161-32732293)x3	ABI1, ACBD5 +376 more	Copy number gain	See cases	GLikely pathogenic
Select item 771739	NM_001142308.3(MALRD1):c.615A>G (p.Gln205=)	MALRD1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 769770	NM_001142308.3(MALRD1):c.975T>C (p.Gly325=)	MALRD1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 768351	NM_001142308.3(MALRD1):c.1002G>A (p.Arg334=)	MALRD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 769362	NM_001142308.3(MALRD1):c.1232A>G (p.Gln411Arg)	MALRD1 (Q411R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 771883	NM_001142308.3(MALRD1):c.1405A>G (p.Thr469Ala)	MALRD1 (T469A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 144994	GRCh38/hg38 10p12.31(chr10:19157661-19521781)x1	MALRD1	Copy number loss	See cases	GBenign
Select item 2640342	NM_001142308.3(MALRD1):c.1756T>G (p.Phe586Val)	MALRD1 (F586V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 769363	NM_001142308.3(MALRD1):c.1806G>A (p.Ala602=)	MALRD1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 769364	NM_001142308.3(MALRD1):c.1997C>T (p.Ala666Val)	MALRD1 (A666V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 785880	NM_001142308.3(MALRD1):c.4923G>C (p.Leu1641=)	MALRD1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 770763	NM_001142308.3(MALRD1):c.5135A>G (p.Asp1712Gly)	MALRD1 (D1712G)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2776137	NM_001142308.3(MALRD1):c.6137+27_6137+29del	MALRD1	Deletion (intron variant)	not provided	GBenign
Select item 559400	Single allele	LOC101928834, LOC124403918 +3 more	Deletion	Failure to thrive in infancy +1 more	GUncertain significance

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Items: 21