Related gene-specific medical variations for Gene (Select 3700) - ClinVar - NCBI

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

Links from Gene

Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3111612	NM_002218.5(ITIH4):c.812T>C (p.Met271Thr)	ITIH4, ITIH4-AS1 (M271T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3036958	NM_002218.5(ITIH4):c.1152C>T (p.Thr384=)	ITIH4, ITIH4-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	ITIH4-related disorder	GLikely benign
Select item 3036187	NM_002218.5(ITIH4):c.760-7G>T	ITIH4, ITIH4-AS1	Single nucleotide variant (intron variant)	ITIH4-related disorder	GLikely benign
Select item 2528480	NM_002218.5(ITIH4):c.1072A>G (p.Met358Val)	ITIH4, ITIH4-AS1 (M358V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 2509882	NM_002218.5(ITIH4):c.1226G>A (p.Arg409Gln)	ITIH4, ITIH4-AS1 (R409Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 2495730	NM_002218.5(ITIH4):c.1225C>T (p.Arg409Trp)	ITIH4, ITIH4-AS1 (R409W)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2471153	NM_002218.5(ITIH4):c.797A>G (p.Glu266Gly)	ITIH4, ITIH4-AS1 (E266G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362710	NM_002218.5(ITIH4):c.1025C>T (p.Ala342Val)	ITIH4, ITIH4-AS1 (A342V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287849	NM_002218.5(ITIH4):c.1112G>A (p.Arg371Gln)	ITIH4, ITIH4-AS1 (R371Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2232100	NM_002218.5(ITIH4):c.1000G>A (p.Val334Met)	ITIH4, ITIH4-AS1 (V334M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 770530	NM_002218.5(ITIH4):c.1209G>A (p.Arg403=)	ITIH4, ITIH4-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 764000	NM_002218.5(ITIH4):c.1155T>C (p.Asp385=)	ITIH4, ITIH4-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 712701	NM_002218.5(ITIH4):c.1204G>A (p.Val402Met)	ITIH4, ITIH4-AS1 (V402M)	Single nucleotide variant (non-coding transcript variant +1 more)	ITIH4-related disorder +1 more	GLikely benign