LOC121852992[gene] - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59116	GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3	ZBTB45, ZFP28 +1081 more	Copy number gain	See cases	GPathogenic
Select item 59117	GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3	LOC130064933, LOC130064934 +1093 more	Copy number gain	See cases	GPathogenic
Select item 59126	GRCh38/hg38 19q13.33-13.43(chr19:49907832-58557889)x3	MIR10394, MIR125A +806 more	Copy number gain	See cases	GPathogenic
Select item 157456	NM_001025778.1(VRK3):c.-376583_-65+1628dup	IZUMO2, KCNC3 +46 more	Duplication	Normal pregnancy	Gnot provided
Select item 58802	GRCh38/hg38 19q13.33(chr19:50076580-50354608)x3	IZUMO2, KCNC3 +31 more	Copy number gain	See cases	GUncertain significance
Select item 146579	GRCh38/hg38 19q13.33-13.43(chr19:50152520-58581203)x3	A1BG, A1BG-AS1 +782 more	Copy number gain	See cases	GPathogenic
Select item 57219	GRCh38/hg38 19q13.33-13.43(chr19:50191219-58535818)x3	LILRA4, LILRA5 +761 more	Copy number gain	See cases	GPathogenic
Select item 1208633	NM_001145809.2(MYH14):c.875-11G>A	LOC121852992, MYH14	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2794015	NM_001145809.2(MYH14):c.876C>T (p.Tyr292=)	LOC121852992, MYH14	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1961763	NM_001145809.2(MYH14):c.901C>T (p.Arg301Cys)	LOC121852992, MYH14 (R301C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 893859	NM_001145809.2(MYH14):c.909C>T (p.Ala303=)	LOC121852992, MYH14	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 4A +1 more	GConflicting classifications of pathogenicity
Select item 2501479	NM_001145809.2(MYH14):c.911A>G (p.Lys304Arg)	LOC121852992, MYH14 (K296R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3011757	NM_001145809.2(MYH14):c.912G>A (p.Lys304=)	LOC121852992, MYH14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3013595	NM_001145809.2(MYH14):c.918G>A (p.Glu306=)	LOC121852992, MYH14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3004449	NM_001145809.2(MYH14):c.945G>A (p.Leu315=)	LOC121852992, MYH14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1800778	NM_001145809.2(MYH14):c.945G>T (p.Leu315=)	LOC121852992, MYH14	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 164169	NM_001145809.2(MYH14):c.949G>A (p.Gly317Arg)	LOC121852992, MYH14 (G317R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2720312	NM_001145809.2(MYH14):c.950G>C (p.Gly317Ala)	LOC121852992, MYH14 (G309A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2975665	NM_001145809.2(MYH14):c.967C>T (p.Leu323Phe)	LOC121852992, MYH14 (L315F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2739272	NM_001145809.2(MYH14):c.973+8C>G	LOC121852992, MYH14	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1959112	NM_001145809.2(MYH14):c.973+16T>C	LOC121852992, MYH14	Single nucleotide variant (intron variant)	not provided	GLikely benign

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Items: 21