Related gene-specific medical variations for Gene (Select 3035) - ClinVar

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Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3360166	NM_002109.6(HARS1):c.-5C>A	HARS1	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 3246405	NC_000005.9:g.(?_140059894)_(140070834_?)del	HARS1	Deletion	Usher syndrome type 3B	GUncertain significance
Select item 3246404	NC_000005.9:g.(?_140056219)_(140059488_?)del	HARS1	Deletion	Usher syndrome type 3B	GUncertain significance
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 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 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 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 2174986	NM_002109.6(HARS1):c.90+18G>A	LOC129994848, HARS1	Single nucleotide variant (intron variant)	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 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 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 2081233	NM_002109.6(HARS1):c.90+11G>A	HARS1, LOC129994848	Single nucleotide variant (intron variant)	Usher syndrome type 3B	GLikely benign
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 1981675	NM_002109.6(HARS1):c.58G>A (p.Gly20Ser)	HARS1, LOC129994848 (G20S)	Single nucleotide variant (missense variant +1 more)	Usher syndrome type 3B +1 more	GConflicting classifications of pathogenicity
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 1799849	NM_002109.6(HARS1):c.2_3insATCC (p.Met1fs)	HARS1, LOC129994848 (M1fs)	Insertion (frameshift variant +1 more)	not specified	GUncertain significance
Select item 1701486	NM_002109.6(HARS1):c.-6_-3delinsCCC	HARS1, LOC119407423	Indel (5 prime UTR variant)	not provided	GUncertain significance
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 1680379	NM_002109.6(HARS1):c.90+14A>C	HARS1, LOC129994848	Single nucleotide variant (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 1680377	NM_002109.6(HARS1):c.90+17del	HARS1, LOC129994848	Deletion (intron variant)	Usher syndrome type 3B	GLikely benign
Select item 1330830	NM_002109.6(HARS1):c.907A>C (p.Lys303Gln)	HARS1 (K189Q +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1272220	NM_002109.6(HARS1):c.90+81A>G	HARS1, LOC129994848	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235200	NM_002109.6(HARS1):c.523-238G>A	HARS1, LOC129994847	Single nucleotide variant (intron variant)	not provided	GBenign
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 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 988916	GRCh37/hg19 5q31.3(chr5:140060429-140070831)x1	HARS1	Copy number loss	not provided	GUncertain significance
Select item 981178	NM_002109.6(HARS1):c.1458+11T>C	HARS1	Single nucleotide variant (intron variant)	Pes cavus	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 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 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
Select item 941419	NM_002109.6(HARS1):c.43G>A (p.Gly15Arg)	LOC129994848, HARS1 (G15R)	Single nucleotide variant (missense variant +1 more)	Usher syndrome type 3B +1 more	GUncertain significance
Select item 851773	NC_000005.9:g.140059894_140070834del	HARS1	Deletion	Usher syndrome type 3B	GUncertain significance
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 811068	NM_002109.6(HARS1):c.811G>C (p.Val271Leu)	HARS1 (V157L +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 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 618672	NM_002109.6(HARS1):c.743A>G (p.Glu248Gly)	HARS1 (E248G +6 more)	Single nucleotide variant (missense variant)	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 546982	NM_002109.6(HARS1):c.90+1G>C	HARS1, LOC129994848	Single nucleotide variant (intron variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
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 504246	NM_002109.6(HARS1):c.90+4A>G	HARS1, LOC129994848	Single nucleotide variant (intron variant)	not provided	GUncertain significance
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 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 351247	NC_000005.10:g.140691368G>A	HARS1, HARS2 +1 more	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign

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Links from Gene

Items: 47