ClinVar for Gene (Select 5859) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 941

<< First< Prev

Page of 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3363291	NM_005051.3(QARS1):c.1856T>G (p.Phe619Cys)	QARS1 (F608C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3361664	NM_005051.3(QARS1):c.2137A>C (p.Ser713Arg)	QARS1 (S702R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3361182	NM_005051.3(QARS1):c.313G>A (p.Val105Met)	QARS1 (V105M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3343037	NM_005051.3(QARS1):c.1012T>A (p.Tyr338Asn)	QARS1 (Y327N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3340272	NM_005051.3(QARS1):c.326G>A (p.Arg109Gln)	QARS1 (R109Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3311923	NM_005051.3(QARS1):c.97C>A (p.Leu33Met)	LOC129936736, QARS1 (L33M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3311922	NM_005051.3(QARS1):c.347T>C (p.Ile116Thr)	QARS1 (I105T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3311920	NM_005051.3(QARS1):c.1012T>C (p.Tyr338His)	QARS1 (Y327H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3311919	NM_005051.3(QARS1):c.37C>T (p.Leu13Phe)	LOC129936736, QARS1 (L13F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3257684	NM_005051.3(QARS1):c.2085-7G>T	QARS1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3252301	NM_005051.3(QARS1):c.322G>T (p.Glu108Ter)	QARS1 (E108* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely pathogenic
Select item 3252162	NM_005051.3(QARS1):c.2071C>G (p.Leu691Val)	QARS1 (L680V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3251838	NM_005051.3(QARS1):c.561dup (p.Lys188fs)	QARS1 (K177fs +1 more)	Duplication (frameshift variant +1 more)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	GPathogenic
Select item 3246864	NC_000003.11:g.(?_48895920)_(49570632_?)del	SLC25A20, TCTA +23 more	Deletion	Carnitine acylcarnitine translocase deficiency +2 more	GPathogenic
Select item 3246860	NC_000003.11:g.(?_48895143)_(49213234_?)del	ARIH2, ARIH2OS +13 more	Deletion	Carnitine acylcarnitine translocase deficiency	GPathogenic
Select item 3150295	NM_005051.3(QARS1):c.68C>G (p.Thr23Arg)	LOC129936736, QARS1 (T23R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3150294	NM_005051.3(QARS1):c.35G>T (p.Ser12Ile)	LOC129936736, QARS1 (S12I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3150293	NM_005051.3(QARS1):c.263G>T (p.Ser88Ile)	QARS1 (S88I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3150292	NM_005051.3(QARS1):c.1945C>T (p.His649Tyr)	QARS1 (H649Y +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3150291	NM_005051.3(QARS1):c.1498C>G (p.Leu500Val)	QARS1 (L500V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3062699	GRCh37/hg19 3p21.31(chr3:49112665-49175315)x1	LAMB2, QARS1 +2 more	Copy number loss	not specified	GUncertain significance
Select item 3020846	NM_005051.3(QARS1):c.1029T>C (p.Tyr343=)	QARS1	Single nucleotide variant (synonymous variant +1 more)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	GLikely benign
Select item 3017956	NM_005051.3(QARS1):c.2085-17C>T	QARS1	Single nucleotide variant (intron variant)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	GLikely benign
Select item 3010950	NM_005051.3(QARS1):c.786del (p.Gln263fs)	QARS1 (Q263fs +1 more)	Deletion (frameshift variant +1 more)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	GPathogenic
Select item 3008741	NM_005051.3(QARS1):c.1888C>T (p.Leu630=)	QARS1	Single nucleotide variant (synonymous variant +1 more)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	GLikely benign
Select item 2991729	NM_005051.3(QARS1):c.255C>G (p.Pro85=)	QARS1	Single nucleotide variant (synonymous variant +1 more)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	GLikely benign
Select item 2989676	NM_005051.3(QARS1):c.2278-13C>G	QARS1	Single nucleotide variant (intron variant)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	GLikely benign
Select item 2988589	NM_005051.3(QARS1):c.703+12T>G	QARS1	Single nucleotide variant (intron variant)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	GLikely benign
Select item 2978300	NM_005051.3(QARS1):c.265+14C>T	QARS1	Single nucleotide variant (intron variant)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	GLikely benign
Select item 2968737	NM_005051.3(QARS1):c.632-17T>C	QARS1	Single nucleotide variant (intron variant)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	GLikely benign
Select item 2955114	NM_005051.3(QARS1):c.1056-20C>G	QARS1	Single nucleotide variant (intron variant)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	GLikely benign
Select item 2919530	NM_005051.3(QARS1):c.2084+12G>A	QARS1	Single nucleotide variant (intron variant)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	GLikely benign
Select item 2917853	NM_005051.3(QARS1):c.570+17C>T	QARS1	Single nucleotide variant (intron variant)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	GLikely benign
Select item 2916547	NM_005051.3(QARS1):c.1669G>A (p.Val557Met)	QARS1 (V557M +1 more)	Single nucleotide variant (missense variant +1 more)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	GUncertain significance
Select item 2915175	NM_005051.3(QARS1):c.2004A>G (p.Ala668=)	QARS1	Single nucleotide variant (synonymous variant +1 more)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	GLikely benign
Select item 2912105	NM_005051.3(QARS1):c.2238T>C (p.Leu746=)	QARS1	Single nucleotide variant (synonymous variant +1 more)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	GLikely benign
Select item 2909405	NM_005051.3(QARS1):c.703+6T>C	QARS1	Single nucleotide variant (intron variant)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	GUncertain significance
Select item 2903858	NM_005051.3(QARS1):c.1957-11C>G	QARS1	Single nucleotide variant (intron variant)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	GLikely benign
Select item 2903061	NM_005051.3(QARS1):c.118-11T>C	QARS1	Single nucleotide variant (intron variant)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	GLikely benign
Select item 2902727	NM_005051.3(QARS1):c.1056-17dup	QARS1	Duplication (intron variant)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	GLikely benign
Select item 2902350	NM_005051.3(QARS1):c.1056-11C>A	QARS1	Single nucleotide variant (intron variant)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	GLikely benign
Select item 2898113	NM_005051.3(QARS1):c.1864-14C>T	QARS1	Single nucleotide variant (intron variant)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	GLikely benign
Select item 2896103	NM_005051.3(QARS1):c.118-14C>T	QARS1	Single nucleotide variant (intron variant)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	GLikely benign
Select item 2892825	NM_005051.3(QARS1):c.1526+8C>T	QARS1	Single nucleotide variant (intron variant)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	GLikely benign
Select item 2892331	NM_005051.3(QARS1):c.877-4C>T	QARS1	Single nucleotide variant (intron variant)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	GLikely benign
Select item 2888694	NM_005051.3(QARS1):c.1634_1637del (p.Gln545fs)	QARS1 (Q534fs +1 more)	Deletion (frameshift variant +1 more)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	GPathogenic
Select item 2887108	NM_005051.3(QARS1):c.376-19A>C	QARS1	Single nucleotide variant (intron variant)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	GLikely benign
Select item 2887088	NM_005051.3(QARS1):c.570+10G>C	QARS1	Single nucleotide variant (intron variant)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	GLikely benign
Select item 2880880	NM_005051.3(QARS1):c.1256G>A (p.Arg419Gln)	QARS1 (R419Q +1 more)	Single nucleotide variant (missense variant +1 more)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	GUncertain significance
Select item 2865748	NM_005051.3(QARS1):c.977-6C>T	QARS1	Single nucleotide variant (intron variant)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	GLikely benign
Select item 2863045	NM_005051.3(QARS1):c.1957-14C>A	QARS1	Single nucleotide variant (intron variant)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	GLikely benign
Select item 2858421	NM_005051.3(QARS1):c.1153C>T (p.Leu385=)	QARS1	Single nucleotide variant (synonymous variant +1 more)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	GLikely benign
Select item 2858073	NM_005051.3(QARS1):c.2061T>C (p.Cys687=)	QARS1	Single nucleotide variant (synonymous variant +1 more)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	GLikely benign
Select item 2857717	NM_005051.3(QARS1):c.846A>G (p.Lys282=)	QARS1	Single nucleotide variant (synonymous variant +1 more)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	GLikely benign
Select item 2857059	NM_005051.3(QARS1):c.259C>T (p.Leu87=)	QARS1	Single nucleotide variant (synonymous variant +1 more)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	GLikely benign
Select item 2854399	NM_005051.3(QARS1):c.273T>C (p.Leu91=)	QARS1	Single nucleotide variant (synonymous variant +1 more)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	GLikely benign
Select item 2853278	NM_005051.3(QARS1):c.818A>C (p.Asn273Thr)	QARS1 (N262T +1 more)	Single nucleotide variant (missense variant +1 more)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	GUncertain significance
Select item 2847228	NM_005051.3(QARS1):c.1704C>A (p.Ala568=)	QARS1	Single nucleotide variant (synonymous variant +1 more)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	GLikely benign
Select item 2841280	NM_005051.3(QARS1):c.632-13T>G	QARS1	Single nucleotide variant (intron variant)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	GLikely benign
Select item 2839582	NM_005051.3(QARS1):c.632-8C>T	QARS1	Single nucleotide variant (intron variant)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	GLikely benign
Select item 2838311	NM_005051.3(QARS1):c.631+16C>G	QARS1	Single nucleotide variant (intron variant)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	GLikely benign
Select item 2836758	NM_005051.3(QARS1):c.265+18C>A	QARS1	Single nucleotide variant (intron variant)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	GLikely benign
Select item 2836428	NM_005051.3(QARS1):c.420A>G (p.Glu140=)	QARS1	Single nucleotide variant (synonymous variant +1 more)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	GLikely benign
Select item 2833347	NM_005051.3(QARS1):c.1216C>T (p.Leu406=)	QARS1	Single nucleotide variant (synonymous variant +1 more)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	GLikely benign
Select item 2830257	NM_005051.3(QARS1):c.1455C>T (p.Gly485=)	QARS1	Single nucleotide variant (synonymous variant +1 more)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	GLikely benign
Select item 2827523	NM_005051.3(QARS1):c.858C>T (p.Phe286=)	QARS1	Single nucleotide variant (synonymous variant +1 more)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	GLikely benign
Select item 2824213	NM_005051.3(QARS1):c.1388+9G>T	QARS1	Single nucleotide variant (intron variant)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	GLikely benign
Select item 2818404	NM_005051.3(QARS1):c.996C>T (p.Val332=)	QARS1	Single nucleotide variant (synonymous variant +1 more)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	GLikely benign
Select item 2810968	NM_005051.3(QARS1):c.2100C>T (p.Asn700=)	QARS1	Single nucleotide variant (synonymous variant +1 more)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	GLikely benign
Select item 2810109	NM_005051.3(QARS1):c.1695C>T (p.Ala565=)	QARS1	Single nucleotide variant (synonymous variant +1 more)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	GLikely benign
Select item 2809196	NM_005051.3(QARS1):c.228A>G (p.Ile76Met)	QARS1 (I76M)	Single nucleotide variant (missense variant)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	GUncertain significance
Select item 2808236	NM_005051.3(QARS1):c.1265A>G (p.Tyr422Cys)	QARS1 (Y411C +1 more)	Single nucleotide variant (missense variant +1 more)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	GUncertain significance
Select item 2800578	NM_005051.3(QARS1):c.1296-5C>T	MIR6890, QARS1	Single nucleotide variant (non-coding transcript variant +1 more)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	GLikely benign
Select item 2799589	NM_005051.3(QARS1):c.1295+12A>G	QARS1	Single nucleotide variant (intron variant)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	GLikely benign
Select item 2799286	NM_005051.3(QARS1):c.1359C>T (p.His453=)	QARS1	Single nucleotide variant (synonymous variant +1 more)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	GLikely benign
Select item 2798004	NM_005051.3(QARS1):c.1056-15A>G	QARS1	Single nucleotide variant (intron variant)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	GLikely benign
Select item 2797754	NM_005051.3(QARS1):c.1965T>C (p.Ser655=)	QARS1	Single nucleotide variant (synonymous variant +1 more)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	GLikely benign
Select item 2795570	NM_005051.3(QARS1):c.918C>T (p.Asn306=)	QARS1	Single nucleotide variant (synonymous variant +1 more)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	GLikely benign
Select item 2795213	NM_005051.3(QARS1):c.345C>A (p.Val115=)	QARS1	Single nucleotide variant (synonymous variant +1 more)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	GLikely benign
Select item 2793619	NM_005051.3(QARS1):c.1389-12C>A	QARS1	Single nucleotide variant (intron variant)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	GLikely benign
Select item 2792483	NM_005051.3(QARS1):c.666G>A (p.Glu222=)	QARS1	Single nucleotide variant (synonymous variant +1 more)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	GLikely benign
Select item 2789448	NM_005051.3(QARS1):c.195T>C (p.Asp65=)	QARS1	Single nucleotide variant (synonymous variant +1 more)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	GLikely benign
Select item 2789402	NM_005051.3(QARS1):c.375+8T>G	QARS1	Single nucleotide variant (intron variant)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	GLikely benign
Select item 2786740	NM_005051.3(QARS1):c.675G>T (p.Arg225=)	QARS1	Single nucleotide variant (synonymous variant +1 more)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	GLikely benign
Select item 2785955	NM_005051.3(QARS1):c.571-11G>A	QARS1	Single nucleotide variant (intron variant)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	GLikely benign
Select item 2784665	NM_005051.3(QARS1):c.1055+11G>T	QARS1	Single nucleotide variant (intron variant)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	GLikely benign
Select item 2778278	NM_005051.3(QARS1):c.1401C>A (p.Tyr467Ter)	QARS1 (Y456* +1 more)	Single nucleotide variant (nonsense +1 more)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	GPathogenic
Select item 2777117	NM_005051.3(QARS1):c.376-15T>C	QARS1	Single nucleotide variant (intron variant)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	GLikely benign
Select item 2768932	NM_005051.3(QARS1):c.442C>T (p.Leu148=)	QARS1	Single nucleotide variant (synonymous variant +1 more)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	GLikely benign
Select item 2760903	NM_005051.3(QARS1):c.1295+10G>A	QARS1	Single nucleotide variant (intron variant)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	GLikely benign
Select item 2755394	NM_005051.3(QARS1):c.1614+2T>C	QARS1	Single nucleotide variant (splice donor variant)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	GLikely pathogenic
Select item 2754627	NM_005051.3(QARS1):c.981C>T (p.Tyr327=)	QARS1	Single nucleotide variant (synonymous variant +1 more)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	GLikely benign
Select item 2750160	NM_005051.3(QARS1):c.1164+11A>G	QARS1	Single nucleotide variant (intron variant)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	GLikely benign
Select item 2743960	NM_005051.3(QARS1):c.1500C>T (p.Leu500=)	QARS1	Single nucleotide variant (synonymous variant +1 more)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	GLikely benign
Select item 2743775	NM_005051.3(QARS1):c.877-6T>C	QARS1	Single nucleotide variant (intron variant)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	GLikely benign
Select item 2738851	NM_005051.3(QARS1):c.921T>C (p.Pro307=)	QARS1	Single nucleotide variant (synonymous variant +1 more)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	GLikely benign
Select item 2738702	NM_005051.3(QARS1):c.1056-16C>A	QARS1	Single nucleotide variant (intron variant)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	GLikely benign
Select item 2728944	NM_005051.3(QARS1):c.2084+14G>A	QARS1	Single nucleotide variant (intron variant)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	GLikely benign
Select item 2728446	NM_005051.3(QARS1):c.1489A>C (p.Arg497=)	QARS1	Single nucleotide variant (synonymous variant +1 more)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	GLikely benign
Select item 2727579	NM_005051.3(QARS1):c.2085-4G>A	QARS1	Single nucleotide variant (intron variant)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	GLikely benign

<< First< Prev

Page of 10