Related gene-specific medical variations for Gene (Select 3090) - ClinVar

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Links from Gene

Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3166523	NM_017575.5(SMG6):c.4241C>T (p.Thr1414Met)	HIC1, SMG6 (T325M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3166522	NM_017575.5(SMG6):c.4231G>C (p.Ala1411Pro)	HIC1, SMG6 (A503P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3166521	NM_017575.5(SMG6):c.4220G>A (p.Arg1407Gln)	HIC1, SMG6 (R1407Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3105780	NM_006497.4(HIC1):c.866G>T (p.Arg289Leu)	HIC1, LOC130059914 (R308L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105779	NM_006497.4(HIC1):c.805T>C (p.Ser269Pro)	HIC1, LOC130059914 (S269P +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3105778	NM_006497.4(HIC1):c.799C>G (p.Leu267Val)	HIC1, LOC130059914 (L286V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105777	NM_006497.4(HIC1):c.751A>G (p.Ser251Gly)	HIC1, LOC130059914 (S270G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105775	NM_006497.4(HIC1):c.2061C>A (p.Asp687Glu)	HIC1, LOC130059917 (D687E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105771	NM_006497.4(HIC1):c.1006C>T (p.Arg336Cys)	HIC1, LOC130059914 (R336C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623387	NM_006497.4(HIC1):c.2140A>G (p.Thr714Ala)	HIC1, LOC130059918 (T714A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535735	NM_006497.4(HIC1):c.2141C>G (p.Thr714Ser)	HIC1, LOC130059918 (T733S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514121	NM_006497.4(HIC1):c.1003G>C (p.Glu335Gln)	HIC1, LOC130059914 (E335Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479717	NM_006497.4(HIC1):c.256C>T (p.Arg86Cys)	HIC1, LOC130059912 (R105C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470661	NM_006497.4(HIC1):c.2073G>C (p.Glu691Asp)	HIC1, LOC130059917 (E691D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458798	NM_006497.4(HIC1):c.307G>C (p.Ala103Pro)	HIC1, LOC130059912 (A122P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403085	NM_006497.4(HIC1):c.512C>G (p.Pro171Arg)	HIC1, LOC130059913 (P171R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361777	NM_006497.4(HIC1):c.1388T>G (p.Leu463Arg)	HIC1, LOC130059916 (L482R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350931	NM_006497.4(HIC1):c.797C>G (p.Ala266Gly)	HIC1, LOC130059914 (A266G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350930	NM_006497.4(HIC1):c.796G>A (p.Ala266Thr)	HIC1, LOC130059914 (A266T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350774	NM_006497.4(HIC1):c.1409G>A (p.Gly470Asp)	HIC1, LOC130059916 (G470D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326206	NM_006497.4(HIC1):c.545C>G (p.Ala182Gly)	HIC1, LOC130059913 (A182G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319127	NM_006497.4(HIC1):c.1328A>T (p.Glu443Val)	HIC1, LOC130059915 (E443V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295123	NM_006497.4(HIC1):c.2077C>A (p.Leu693Met)	HIC1, LOC130059917 (L693M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266281	NM_006497.4(HIC1):c.2094C>G (p.His698Gln)	HIC1, LOC130059917 (H698Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253176	NM_006497.4(HIC1):c.2090C>T (p.Ala697Val)	HIC1, LOC130059917 (A697V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245392	NM_006497.4(HIC1):c.866G>A (p.Arg289His)	HIC1, LOC130059914 (R308H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 787725	NM_006497.4(HIC1):c.1369G>A (p.Ala457Thr)	HIC1, LOC130059915 (A457T +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 723622	NM_006497.4(HIC1):c.1398T>C (p.Pro466=)	HIC1, LOC130059916	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 720012	NM_006497.4(HIC1):c.1416C>T (p.Asp472=)	HIC1, LOC130059916	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 718287	NM_006497.4(HIC1):c.252C>T (p.Thr84=)	HIC1, LOC130059912	Single nucleotide variant (synonymous variant)	not provided	GBenign

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Links from Gene

Items: 30