Related gene-specific medical variations for Gene (Select 9489) - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3272700	NM_173628.4(DNAH17):c.13289G>A (p.Arg4430His)	DNAH17, PGS1 (R4430H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3083706	NM_173628.4(DNAH17):c.13219T>A (p.Phe4407Ile)	DNAH17, PGS1 (F4407I)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3083705	NM_173628.4(DNAH17):c.13216A>G (p.Ile4406Val)	DNAH17, PGS1 (I4406V)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3049256	NM_173628.4(DNAH17):c.13183C>T (p.Arg4395Trp)	DNAH17, PGS1 (R4395W)	Single nucleotide variant (missense variant +2 more)	DNAH17-related disorder	GLikely benign
Select item 3033897	NM_024419.5(PGS1):c.*11-158G>A	DNAH17, PGS1	Single nucleotide variant (3 prime UTR variant +1 more)	PGS1-related disorder	GLikely benign
Select item 2648343	NM_024419.5(PGS1):c.*11-44C>A	DNAH17, PGS1	Single nucleotide variant (synonymous variant +1 more)	DNAH17-related disorder +1 more	GLikely benign
Select item 2648342	NM_173628.4(DNAH17):c.13296C>T (p.Arg4432=)	DNAH17, PGS1	Single nucleotide variant (synonymous variant +1 more)	DNAH17-related disorder +1 more	GLikely benign
Select item 2648341	NM_173628.4(DNAH17):c.13365C>T (p.Ala4455=)	DNAH17, PGS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2553826	NM_173628.4(DNAH17):c.13346C>G (p.Ala4449Gly)	DNAH17, PGS1 (A4449G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2374844	NM_173628.4(DNAH17):c.13330A>G (p.Thr4444Ala)	DNAH17, PGS1 (T4444A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2355990	NM_173628.4(DNAH17):c.13312T>C (p.Trp4438Arg)	DNAH17, PGS1 (W4438R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2350639	NM_173628.4(DNAH17):c.13346C>A (p.Ala4449Glu)	DNAH17, PGS1 (A4449E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2270779	NM_173628.4(DNAH17):c.13184G>A (p.Arg4395Gln)	DNAH17, PGS1 (R4395Q)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2246516	NM_173628.4(DNAH17):c.13243C>T (p.Arg4415Cys)	DNAH17, PGS1 (R4415C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2210343	NM_173628.4(DNAH17):c.13346C>T (p.Ala4449Val)	DNAH17, PGS1 (A4449V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1269355	NM_173628.4(DNAH17):c.13142-159C>T	DNAH17, PGS1	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GBenign
Select item 1246795	NM_173628.4(DNAH17):c.*105C>T	DNAH17, PGS1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1246188	NM_173628.4(DNAH17):c.13142-203A>T	DNAH17, PGS1	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GBenign
Select item 1241586	NM_173628.4(DNAH17):c.13291A>G (p.Ile4431Val)	DNAH17, PGS1 (I4431V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 1232395	NM_173628.4(DNAH17):c.13142-139C>T	DNAH17, PGS1	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GBenign

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Links from Gene

Items: 20