"GeneDx"[submitter] AND "HYDIN"[gene] - ClinVar

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

Search results

Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58632	GRCh38/hg38 16q21-23.1(chr16:58456122-74708723)x3	LOC130059197, LOC130059198 +575 more	Copy number gain	See cases	GPathogenic
Select item 59495	GRCh38/hg38 16q22.1-23.1(chr16:68698941-74353205)x1	AARS1, AP1G1 +263 more	Copy number loss	See cases	GPathogenic
Select item 59514	GRCh38/hg38 16q22.1-23.1(chr16:69918076-76723348)x1	AARS1, ADAT1 +295 more	Copy number loss	See cases	GPathogenic
Select item 3375858	NM_001270974.2(HYDIN):c.13432A>G (p.Thr4478Ala)	HYDIN (T4478A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 422647	NM_001270974.2(HYDIN):c.12846_12847del (p.Leu4283fs)	HYDIN (L4283fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 2581928	NM_001270974.2(HYDIN):c.12811G>A (p.Ala4271Thr)	HYDIN (A4271T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1878992	NM_001270974.2(HYDIN):c.12121A>G (p.Lys4041Glu)	HYDIN (K4041E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2499828	NM_001270974.2(HYDIN):c.10973T>G (p.Phe3658Cys)	HYDIN (F3658C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1878859	NM_001270974.2(HYDIN):c.10694C>T (p.Ser3565Phe)	HYDIN (S3565F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1306347	NM_001270974.2(HYDIN):c.10385G>A (p.Arg3462Gln)	HYDIN (R3462Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1304294	NM_001270974.2(HYDIN):c.10072G>A (p.Gly3358Arg)	HYDIN (G3358R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2663618	NM_001270974.2(HYDIN):c.9548G>A (p.Cys3183Tyr)	HYDIN (C3183Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1206104	NM_001270974.2(HYDIN):c.9223C>T (p.Arg3075Cys)	HYDIN (R3075C)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1326606	NM_001270974.2(HYDIN):c.8905C>T (p.Arg2969Trp)	HYDIN (R2969W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1312907	NM_001270974.2(HYDIN):c.8863G>A (p.Val2955Ile)	HYDIN (V2955I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3340583	NM_001270974.2(HYDIN):c.8356C>T (p.Arg2786Ter)	HYDIN (R2786*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 402954	NM_001270974.2(HYDIN):c.7364C>A (p.Pro2455Gln)	HYDIN (P2455Q)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 3359408	NM_001270974.2(HYDIN):c.6958C>T (p.Arg2320Trp)	HYDIN (R2320W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1698038	NM_001270974.2(HYDIN):c.6934G>A (p.Glu2312Lys)	HYDIN (E2312K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 402955	NM_001270974.2(HYDIN):c.6917A>G (p.Glu2306Gly)	HYDIN (E2306G)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 1184350	NM_001270974.2(HYDIN):c.6557G>C (p.Gly2186Ala)	HYDIN (G2186A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1810176	NM_001270974.2(HYDIN):c.6326C>T (p.Ala2109Val)	HYDIN (A2109V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 430511	NM_001270974.2(HYDIN):c.6289C>T (p.Gln2097Ter)	HYDIN (Q2097*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 1214087	NM_001270974.2(HYDIN):c.6053G>A (p.Arg2018His)	HYDIN (R2018H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1878678	NM_001270974.2(HYDIN):c.5536G>A (p.Glu1846Lys)	HYDIN (E1846K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 430513	NM_001270974.2(HYDIN):c.5446C>T (p.Arg1816Cys)	HYDIN (R1816C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2663430	NM_001270974.2(HYDIN):c.4627G>A (p.Glu1543Lys)	HYDIN (E1543K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3375857	NM_001270974.2(HYDIN):c.4399T>G (p.Phe1467Val)	HYDIN (F1467V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2442498	NM_001270974.2(HYDIN):c.3475C>T (p.Arg1159Cys)	HYDIN (R1159C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2499888	NM_001270974.2(HYDIN):c.2873A>G (p.Lys958Arg)	HYDIN (K958R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2442500	NM_001270974.2(HYDIN):c.2395G>A (p.Ala799Thr)	HYDIN (A799T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2581926	NM_001270974.2(HYDIN):c.1682T>C (p.Ile561Thr)	HYDIN, LOC126862387 (I561T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 402957	NM_001270974.2(HYDIN):c.1077T>C (p.Asp359=)	HYDIN	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1282535	NM_001270974.2(HYDIN):c.1044-18A>C	HYDIN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2504703	NM_001270974.2(HYDIN):c.215del (p.Pro72fs)	HYDIN (P72fs +2 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 3361291	NM_001270974.2(HYDIN):c.3683T>G (p.Val1228Gly)	HYDIN (V1228G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361290	NM_001270974.2(HYDIN):c.11332C>A (p.Pro3778Thr)	HYDIN (P3778T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359407	NM_001270974.2(HYDIN):c.12196G>A (p.Glu4066Lys)	HYDIN (E4066K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 38