HHIP[gene] and "single gene"[properties] - ClinVar

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Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 870129	NC_000004.12:g.144539078A>G	HHIP	Single nucleotide variant	Chronic obstructive pulmonary disease, biomass related +1 more	Gassociation
Select item 870131	NC_000004.12:g.144559628A>G	HHIP	Single nucleotide variant	Chronic obstructive pulmonary disease, biomass related +1 more	Gassociation
Select item 870130	NC_000004.12:g.144565237A>G	HHIP	Single nucleotide variant	Chronic obstructive pulmonary disease, biomass related +1 more	Gassociation
Select item 2279695	NM_022475.3(HHIP):c.139C>G (p.Arg47Gly)	HHIP (R47G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533360	NM_022475.3(HHIP):c.157A>T (p.Arg53Trp)	HHIP (R53W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105703	NM_022475.3(HHIP):c.176T>C (p.Leu59Pro)	HHIP (L59P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379745	NM_022475.3(HHIP):c.365T>G (p.Leu122Arg)	HHIP (L122R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291178	NM_022475.3(HHIP):c.395A>G (p.Glu132Gly)	HHIP (E132G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284229	NM_022475.3(HHIP):c.428A>C (p.Asp143Ala)	HHIP (D143A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225171	NM_022475.3(HHIP):c.467T>C (p.Ile156Thr)	HHIP (I156T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3350792	NM_022475.3(HHIP):c.473-55G>A	HHIP	Single nucleotide variant (intron variant)	HHIP-related condition	GLikely benign
Select item 2488458	NM_022475.3(HHIP):c.473G>T (p.Gly158Val)	HHIP (G158V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380527	NM_022475.3(HHIP):c.484A>G (p.Thr162Ala)	HHIP (T162A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105706	NM_022475.3(HHIP):c.590A>G (p.Asp197Gly)	HHIP (D197G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385480	NM_022475.3(HHIP):c.688G>A (p.Val230Ile)	HHIP (V230I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 767978	NM_022475.3(HHIP):c.707G>A (p.Gly236Glu)	HHIP (G236E)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3105707	NM_022475.3(HHIP):c.722G>A (p.Arg241His)	HHIP (R241H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339675	NM_022475.3(HHIP):c.764C>T (p.Thr255Ile)	HHIP (T255I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248578	NM_022475.3(HHIP):c.764C>A (p.Thr255Asn)	HHIP (T255N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591701	NM_022475.3(HHIP):c.767C>A (p.Pro256His)	HHIP (P256H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333007	NM_022475.3(HHIP):c.889G>A (p.Gly297Arg)	HHIP (G297R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462534	NM_022475.3(HHIP):c.973A>G (p.Thr325Ala)	HHIP (T325A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105701	NM_022475.3(HHIP):c.1313A>C (p.Asp438Ala)	HHIP (D438A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398991	NM_022475.3(HHIP):c.1340A>G (p.Asn447Ser)	HHIP (N447S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 722364	NM_022475.3(HHIP):c.1346C>T (p.Thr449Met)	HHIP (T449M)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3105702	NM_022475.3(HHIP):c.1489T>C (p.Tyr497His)	HHIP (Y497H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229613	NM_022475.3(HHIP):c.1528G>A (p.Val510Met)	HHIP (V510M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 767979	NM_022475.3(HHIP):c.1547+10C>G	HHIP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2546794	NM_022475.3(HHIP):c.1628G>A (p.Cys543Tyr)	HHIP (C543Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301655	NM_022475.3(HHIP):c.1763C>T (p.Pro588Leu)	HHIP (P588L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468887	NM_022475.3(HHIP):c.1790C>T (p.Thr597Met)	HHIP (T597M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284228	NM_022475.3(HHIP):c.1799C>G (p.Pro600Arg)	HHIP (P600R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527452	NM_022475.3(HHIP):c.1802C>A (p.Ala601Glu)	HHIP (A601E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393896	NM_022475.3(HHIP):c.1838G>A (p.Arg613Gln)	HHIP (R613Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390998	NM_022475.3(HHIP):c.1843G>A (p.Gly615Ser)	HHIP (G615S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105704	NM_022475.3(HHIP):c.1882G>A (p.Gly628Ser)	HHIP (G628S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206570	NM_022475.3(HHIP):c.2020C>G (p.Arg674Gly)	HHIP (R674G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 37