Related gene-specific medical variations for Gene (Select 92105) - ClinVar - NCBI

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Links from Gene

Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2642195	NM_033547.4(INTS4):c.2091G>A (p.Ala697=)	AAMDC, INTS4	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2642194	NM_033547.4(INTS4):c.2228+851C>T	AAMDC, INTS4	Single nucleotide variant (splice acceptor variant +1 more)	not provided	GLikely benign
Select item 2597275	NM_033547.4(INTS4):c.2278T>C (p.Phe760Leu)	AAMDC, INTS4 (F760L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2591484	NM_033547.4(INTS4):c.2357G>A (p.Arg786Gln)	AAMDC, INTS4 (R786Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2548533	NM_033547.4(INTS4):c.2354C>T (p.Pro785Leu)	AAMDC, INTS4 (P785L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2514727	NM_033547.4(INTS4):c.2483C>T (p.Ala828Val)	AAMDC, INTS4 (A828V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2513801	NM_033547.4(INTS4):c.2725G>C (p.Val909Leu)	AAMDC, INTS4 (V909L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2488956	NM_033547.4(INTS4):c.2576A>T (p.Asn859Ile)	AAMDC, INTS4 (N859I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2406424	NM_033547.4(INTS4):c.2449A>G (p.Ile817Val)	AAMDC, INTS4 (I817V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2388370	NM_033547.4(INTS4):c.2822G>A (p.Ser941Asn)	AAMDC, INTS4 (S941N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2380078	NM_033547.4(INTS4):c.2365A>G (p.Thr789Ala)	AAMDC, INTS4 (T789A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2359544	NM_033547.4(INTS4):c.2299G>A (p.Ala767Thr)	AAMDC, INTS4 (A767T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2315951	NM_033547.4(INTS4):c.2851C>G (p.Pro951Ala)	AAMDC, INTS4 (P951A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2297524	NM_033547.4(INTS4):c.2765G>T (p.Arg922Leu)	AAMDC, INTS4 (R922L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2231993	NM_033547.4(INTS4):c.2338C>G (p.Leu780Val)	AAMDC, INTS4 (L780V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance