LOC129994848[gene] - ClinVar

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Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59672	GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	ABLIM3, ACSL6 +1672 more	Copy number loss	See cases	GPathogenic
Select item 149858	GRCh38/hg38 5q23.3-33.2(chr5:129847794-153353546)x3	LOC129994992, LOC129994993 +1157 more	Copy number gain	See cases	GPathogenic
Select item 57483	GRCh38/hg38 5q23.3-33.2(chr5:130860928-155321811)x3	ABLIM3, ACSL6 +1218 more	Copy number gain	See cases	GPathogenic
Select item 145330	GRCh38/hg38 5q31.2-31.3(chr5:137836682-140696361)x3	ECSCR, EGR1 +224 more	Copy number gain	See cases	GPathogenic
Select item 58388	GRCh38/hg38 5q31.2-32(chr5:138871137-145812309)x1	ANKHD1, ANKHD1-DT +377 more	Copy number loss	See cases	GPathogenic
Select item 1272220	NM_002109.6(HARS1):c.90+81A>G	HARS1, LOC129994848	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2174986	NM_002109.6(HARS1):c.90+18G>A	LOC129994848, HARS1	Single nucleotide variant (intron variant)	Usher syndrome type 3B	GLikely benign
Select item 1680377	NM_002109.6(HARS1):c.90+17del	HARS1, LOC129994848	Deletion (intron variant)	Usher syndrome type 3B	GLikely benign
Select item 1680378	NM_002109.6(HARS1):c.90+16C>T	HARS1, LOC129994848	Single nucleotide variant (intron variant)	Usher syndrome type 3B	GLikely benign
Select item 1680379	NM_002109.6(HARS1):c.90+14A>C	HARS1, LOC129994848	Single nucleotide variant (intron variant)	Usher syndrome type 3B	GLikely benign
Select item 2081233	NM_002109.6(HARS1):c.90+11G>A	HARS1, LOC129994848	Single nucleotide variant (intron variant)	Usher syndrome type 3B	GLikely benign
Select item 1680380	NM_002109.6(HARS1):c.90+5G>A	HARS1, LOC129994848	Single nucleotide variant (intron variant)	Usher syndrome type 3B	GUncertain significance
Select item 965557	NM_002109.6(HARS1):c.90+4A>C	HARS1, LOC129994848	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 504246	NM_002109.6(HARS1):c.90+4A>G	HARS1, LOC129994848	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1024468	NM_002109.6(HARS1):c.90+3G>A	HARS1, LOC129994848	Single nucleotide variant (intron variant)	Usher syndrome type 3B	GUncertain significance
Select item 2103649	NM_002109.6(HARS1):c.90+1G>A	LOC129994848, HARS1	Single nucleotide variant (intron variant +1 more)	Usher syndrome type 3B	GUncertain significance
Select item 546982	NM_002109.6(HARS1):c.90+1G>C	HARS1, LOC129994848	Single nucleotide variant (intron variant +1 more)	Usher syndrome type 3B +2 more	GConflicting classifications of pathogenicity
Select item 1317154	NM_002109.6(HARS1):c.89T>G (p.Leu30Arg)	HARS1, LOC129994848 (L30R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 566921	NM_002109.6(HARS1):c.88C>A (p.Leu30Met)	HARS1, LOC129994848 (L30M)	Single nucleotide variant (missense variant +1 more)	Usher syndrome type 3B	GUncertain significance
Select item 2758341	NM_002109.6(HARS1):c.86A>T (p.Glu29Val)	HARS1, LOC129994848 (E29V)	Single nucleotide variant (missense variant +1 more)	Usher syndrome type 3B	GUncertain significance
Select item 2068936	NM_002109.6(HARS1):c.80G>A (p.Ser27Asn)	HARS1, LOC129994848 (S27N)	Single nucleotide variant (missense variant +1 more)	Usher syndrome type 3B	GUncertain significance
Select item 2128577	NM_002109.6(HARS1):c.74A>G (p.Lys25Arg)	HARS1, LOC129994848 (K25R)	Single nucleotide variant (missense variant +1 more)	Usher syndrome type 3B	GUncertain significance
Select item 540209	NM_002109.6(HARS1):c.72G>A (p.Gln24=)	HARS1, LOC129994848	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GLikely benign
Select item 839491	NM_002109.6(HARS1):c.62T>G (p.Leu21Arg)	LOC129994848, HARS1 (L21R)	Single nucleotide variant (missense variant +1 more)	Usher syndrome type 3B	GUncertain significance
Select item 647038	NM_002109.6(HARS1):c.61C>T (p.Leu21Phe)	LOC129994848, HARS1 (L21F)	Single nucleotide variant (missense variant +1 more)	Usher syndrome type 3B	GUncertain significance
Select item 1981675	NM_002109.6(HARS1):c.58G>A (p.Gly20Ser)	HARS1, LOC129994848 (G20S)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 472993	NM_002109.6(HARS1):c.52G>A (p.Val18Met)	HARS1, LOC129994848 (V18M)	Single nucleotide variant (missense variant +1 more)	Usher syndrome type 3B +2 more	GConflicting classifications of pathogenicity
Select item 941419	NM_002109.6(HARS1):c.43G>A (p.Gly15Arg)	HARS1, LOC129994848 (G15R)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2778709	NM_002109.6(HARS1):c.42G>A (p.Gln14=)	HARS1, LOC129994848	Single nucleotide variant (synonymous variant +1 more)	Usher syndrome type 3B	GLikely benign
Select item 704272	NM_002109.6(HARS1):c.40C>A (p.Gln14Lys)	HARS1, LOC129994848 (Q14K)	Single nucleotide variant (missense variant +1 more)	Usher syndrome type 3B +1 more	GBenign
Select item 774768	NM_002109.6(HARS1):c.39T>G (p.Leu13=)	HARS1, LOC129994848	Single nucleotide variant (synonymous variant +1 more)	Usher syndrome type 3B	GLikely benign
Select item 2803453	NM_002109.6(HARS1):c.28C>G (p.Leu10Val)	HARS1, LOC129994848 (L10V)	Single nucleotide variant (missense variant +1 more)	Usher syndrome type 3B	GUncertain significance
Select item 1951958	NM_002109.6(HARS1):c.28C>T (p.Leu10=)	HARS1, LOC129994848	Single nucleotide variant (synonymous variant +1 more)	Usher syndrome type 3B	GLikely benign
Select item 2169233	NM_002109.6(HARS1):c.24G>A (p.Glu8=)	HARS1, LOC129994848	Single nucleotide variant (synonymous variant +1 more)	Usher syndrome type 3B	GLikely benign
Select item 963359	NM_002109.6(HARS1):c.17C>G (p.Ala6Gly)	HARS1, LOC129994848 (A6G)	Single nucleotide variant (missense variant +1 more)	Usher syndrome type 3B	GUncertain significance
Select item 472991	NM_002109.6(HARS1):c.14C>A (p.Ala5Glu)	HARS1, LOC129994848 (A5E)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2768013	NM_002109.6(HARS1):c.4del (p.Ala2fs)	HARS1, LOC129994848 (A2fs)	Deletion (frameshift variant +2 more)	Usher syndrome type 3B	GUncertain significance
Select item 1001366	NM_002109.6(HARS1):c.4G>A (p.Ala2Thr)	HARS1, LOC129994848 (A2T)	Single nucleotide variant (missense variant +1 more)	Usher syndrome type 3B	GUncertain significance
Select item 1799849	NM_002109.6(HARS1):c.2_3insATCC (p.Met1fs)	HARS1, LOC129994848 (M1fs)	Insertion (frameshift variant +1 more)	not specified	GUncertain significance
Select item 944543	NM_002109.6(HARS1):c.2T>C (p.Met1Thr)	HARS1, LOC129994848 (M1T)	Single nucleotide variant (missense variant +1 more)	Usher syndrome type 3B	GUncertain significance

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Items: 40