"Ambry Genetics"[submitter] AND "HID1"[gene] - ClinVar

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Items: 56

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2616117	NM_030630.3(HID1):c.2307T>A (p.Asn769Lys)	HID1 (N769K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250093	NM_030630.3(HID1):c.2267G>T (p.Trp756Leu)	HID1 (W756L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294798	NM_030630.3(HID1):c.2173C>T (p.Arg725Trp)	HID1 (R725W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409706	NM_030630.3(HID1):c.2092A>G (p.Met698Val)	HID1 (M698V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465904	NM_030630.3(HID1):c.2056C>G (p.Leu686Val)	HID1 (L686V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105804	NM_030630.3(HID1):c.2053G>A (p.Val685Ile)	HID1 (V685I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219736	NM_030630.3(HID1):c.2042C>T (p.Thr681Met)	HID1 (T681M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 986224	NM_030630.3(HID1):c.2002C>T (p.Arg668Ter)	HID1 (R668*)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GLikely pathogenic
Select item 2337199	NM_030630.3(HID1):c.1987T>C (p.Trp663Arg)	HID1 (W663R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487462	NM_030630.3(HID1):c.1981C>A (p.Gln661Lys)	HID1 (Q661K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218006	NM_030630.3(HID1):c.1979G>T (p.Ser660Ile)	HID1 (S660I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540130	NM_030630.3(HID1):c.1892A>C (p.Gln631Pro)	HID1 (Q631P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105803	NM_030630.3(HID1):c.1808G>T (p.Arg603Leu)	HID1 (R603L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542680	NM_030630.3(HID1):c.1808G>A (p.Arg603His)	HID1 (R603H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105802	NM_030630.3(HID1):c.1772C>A (p.Thr591Asn)	HID1 (T591N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621712	NM_030630.3(HID1):c.1766C>G (p.Ser589Cys)	HID1 (S589C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592313	NM_030630.3(HID1):c.1748G>A (p.Arg583Gln)	HID1 (R583Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284267	NM_030630.3(HID1):c.1747C>T (p.Arg583Trp)	HID1 (R583W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386055	NM_030630.3(HID1):c.1744C>T (p.Arg582Trp)	HID1 (R582W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105801	NM_030630.3(HID1):c.1666C>T (p.Arg556Cys)	HID1 (R556C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267515	NM_030630.3(HID1):c.1606T>C (p.Phe536Leu)	HID1 (F536L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105800	NM_030630.3(HID1):c.1559T>C (p.Phe520Ser)	HID1 (F520S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105799	NM_030630.3(HID1):c.1500G>A (p.Met500Ile)	HID1 (M500I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340876	NM_030630.3(HID1):c.1472T>C (p.Val491Ala)	HID1 (V491A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105798	NM_030630.3(HID1):c.1462G>A (p.Val488Met)	HID1 (V488M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105797	NM_030630.3(HID1):c.1364C>A (p.Thr455Lys)	HID1 (T455K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105796	NM_030630.3(HID1):c.1350C>A (p.Asp450Glu)	HID1 (D450E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105795	NM_030630.3(HID1):c.1337G>A (p.Arg446His)	HID1 (R446H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295394	NM_030630.3(HID1):c.1313G>A (p.Arg438Gln)	HID1 (R438Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325387	NM_030630.3(HID1):c.1312C>T (p.Arg438Trp)	HID1 (R438W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332188	NM_030630.3(HID1):c.1277T>G (p.Leu426Trp)	HID1 (L426W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284270	NM_030630.3(HID1):c.1183G>A (p.Val395Ile)	HID1 (V395I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616172	NM_030630.3(HID1):c.1162T>C (p.Phe388Leu)	HID1 (F388L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477931	NM_030630.3(HID1):c.1145A>G (p.Asn382Ser)	HID1 (N382S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313550	NM_030630.3(HID1):c.1029G>T (p.Lys343Asn)	HID1 (K343N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 986225	NM_030630.3(HID1):c.1009-1G>T	HID1	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2268960	NM_030630.3(HID1):c.991C>T (p.Arg331Cys)	HID1 (R331C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536290	NM_030630.3(HID1):c.922A>C (p.Thr308Pro)	HID1 (T308P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105809	NM_030630.3(HID1):c.839T>C (p.Leu280Pro)	HID1 (L280P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375589	NM_030630.3(HID1):c.829C>T (p.Arg277Trp)	HID1 (R277W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308553	NM_030630.3(HID1):c.793G>C (p.Gly265Arg)	HID1 (G265R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105808	NM_030630.3(HID1):c.776A>G (p.Tyr259Cys)	HID1 (Y259C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475788	NM_030630.3(HID1):c.731A>G (p.His244Arg)	HID1 (H244R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553981	NM_030630.3(HID1):c.572C>T (p.Ala191Val)	HID1 (A191V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105806	NM_030630.3(HID1):c.509C>T (p.Ser170Leu)	HID1 (S170L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226280	NM_030630.3(HID1):c.491G>A (p.Arg164Gln)	HID1 (R164Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466106	NM_030630.3(HID1):c.436C>T (p.Leu146Phe)	HID1 (L146F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362268	NM_030630.3(HID1):c.418C>T (p.Pro140Ser)	HID1 (P140S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284266	NM_030630.3(HID1):c.406G>A (p.Glu136Lys)	HID1 (E136K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284268	NM_030630.3(HID1):c.308G>A (p.Arg103His)	HID1 (R103H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598408	NM_030630.3(HID1):c.260C>T (p.Ser87Leu)	HID1 (S87L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389395	NM_030630.3(HID1):c.152C>T (p.Pro51Leu)	HID1 (P51L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454555	NM_030630.3(HID1):c.125C>T (p.Ser42Leu)	HID1 (S42L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399521	NM_030630.3(HID1):c.97G>A (p.Asp33Asn)	HID1 (D33N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383845	NM_030630.3(HID1):c.89C>T (p.Ala30Val)	HID1 (A30V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284269	NM_030630.3(HID1):c.23T>C (p.Leu8Pro)	HID1, HID1-AS1 (L8P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 56