Related gene-specific medical variations for Gene (Select 3697) - ClinVar - NCBI

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Links from Gene

Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3111559	NM_002215.4(ITIH1):c.467G>A (p.Ser156Asn)	ITIH1, LOC129936873 (S14N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111558	NM_002215.4(ITIH1):c.338T>A (p.Ile113Lys)	ITIH1, LOC126806682 (I113K)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2621494	NM_002215.4(ITIH1):c.460C>A (p.Pro154Thr)	ITIH1, LOC129936873 (P154T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618777	NM_002215.4(ITIH1):c.286T>C (p.Phe96Leu)	ITIH1, LOC126806682 (F96L)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2602162	NM_002215.4(ITIH1):c.341A>G (p.Lys114Arg)	ITIH1, LOC126806682 (K114R)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2590256	NM_002215.4(ITIH1):c.308C>T (p.Thr103Ile)	ITIH1, LOC126806682 (T103I)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2490679	NM_002215.4(ITIH1):c.208G>C (p.Val70Leu)	ITIH1, LOC126806682 (V70L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489271	NM_002215.4(ITIH1):c.416C>T (p.Ser139Leu)	ITIH1, LOC129936873 (S139L)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2456398	NM_002215.4(ITIH1):c.151G>A (p.Val51Met)	ITIH1, LOC126806682 (V51M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332778	NM_002215.4(ITIH1):c.321C>A (p.Asn107Lys)	ITIH1, LOC126806682 (N107K)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2220232	NM_002215.4(ITIH1):c.161G>A (p.Arg54Gln)	ITIH1, LOC126806682 (R54Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 487491	NM_002215.4(ITIH1):c.1784= (p.Gln595=)	ITIH1	Single nucleotide variant (no sequence alteration)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 487490	NM_002215.4(ITIH1):c.1784A>G (p.Gln595Arg)	ITIH1 (Q595R +2 more)	Single nucleotide variant (missense variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 487488	NM_002215.4(ITIH1):c.1754= (p.Glu585=)	ITIH1	Single nucleotide variant (no sequence alteration)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant