"Ambry Genetics"[submitter] AND "ARHGAP19-SLIT1"[gene] - ClinVar

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

Search results

Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2274367	NM_003061.3(SLIT1):c.334G>C (p.Glu112Gln)	ARHGAP19-SLIT1, SLIT1 (E112Q)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2243812	NM_003061.3(SLIT1):c.326A>G (p.Lys109Arg)	SLIT1, ARHGAP19-SLIT1 (K109R)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2268822	NM_003061.3(SLIT1):c.211A>T (p.Asn71Tyr)	SLIT1, ARHGAP19-SLIT1 (N71Y)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2527970	NM_003061.3(SLIT1):c.131C>A (p.Thr44Lys)	ARHGAP19-SLIT1, SLIT1 (T44K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2478937	NM_003061.3(SLIT1):c.76G>C (p.Ala26Pro)	ARHGAP19-SLIT1, SLIT1 (A26P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2346226	NM_003061.3(SLIT1):c.43C>T (p.Arg15Trp)	SLIT1, ARHGAP19-SLIT1 (R15W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2326757	NM_003061.3(SLIT1):c.26C>T (p.Ser9Phe)	SLIT1, ARHGAP19-SLIT1 (S9F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2542653	NM_032900.6(ARHGAP19):c.1421C>T (p.Thr474Met)	ARHGAP19, ARHGAP19-SLIT1 (T474M +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2473472	NM_032900.6(ARHGAP19):c.1252G>A (p.Ala418Thr)	ARHGAP19, ARHGAP19-SLIT1 (A389T +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2331592	NM_032900.6(ARHGAP19):c.1220G>T (p.Arg407Leu)	ARHGAP19-SLIT1, ARHGAP19 (R407L +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2365445	NM_032900.6(ARHGAP19):c.1178T>C (p.Ile393Thr)	ARHGAP19-SLIT1, ARHGAP19 (I384T +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2619796	NM_032900.6(ARHGAP19):c.1138G>A (p.Val380Ile)	ARHGAP19, ARHGAP19-SLIT1 (V351I +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2207157	NM_032900.6(ARHGAP19):c.1093A>G (p.Thr365Ala)	ARHGAP19-SLIT1, ARHGAP19 (T336A +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2351526	NM_032900.6(ARHGAP19):c.985G>T (p.Ala329Ser)	ARHGAP19, ARHGAP19-SLIT1 (A329S +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2244428	NM_032900.6(ARHGAP19):c.960G>C (p.Leu320Phe)	ARHGAP19, ARHGAP19-SLIT1 (L291F +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2356621	NM_032900.6(ARHGAP19):c.719G>A (p.Arg240His)	ARHGAP19, ARHGAP19-SLIT1 (R231H +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2527719	NM_032900.6(ARHGAP19):c.667C>T (p.Arg223Trp)	ARHGAP19, ARHGAP19-SLIT1 (R214W +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2228510	NM_032900.6(ARHGAP19):c.661A>G (p.Lys221Glu)	ARHGAP19-SLIT1, ARHGAP19 (K221E +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2615783	NM_032900.6(ARHGAP19):c.582T>G (p.His194Gln)	ARHGAP19, ARHGAP19-SLIT1 (H194Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2318800	NM_032900.6(ARHGAP19):c.442A>G (p.Ser148Gly)	ARHGAP19-SLIT1, ARHGAP19 (S139G +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2488393	NM_032900.6(ARHGAP19):c.344C>T (p.Ser115Phe)	ARHGAP19, ARHGAP19-SLIT1 (S115F +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2484552	NM_032900.6(ARHGAP19):c.317G>A (p.Arg106Gln)	ARHGAP19, ARHGAP19-SLIT1 (R106Q +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2258810	NM_032900.6(ARHGAP19):c.269G>T (p.Gly90Val)	ARHGAP19, ARHGAP19-SLIT1 (G81V +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2261107	NM_032900.6(ARHGAP19):c.236T>C (p.Leu79Pro)	ARHGAP19-SLIT1, ARHGAP19 (L70P +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2219334	NM_032900.6(ARHGAP19):c.191A>G (p.Asn64Ser)	ARHGAP19-SLIT1, ARHGAP19 (N55S +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2619281	NM_032900.6(ARHGAP19):c.47C>G (p.Ser16Cys)	ARHGAP19, ARHGAP19-SLIT1 (S16C)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2396178	NM_032900.6(ARHGAP19):c.28G>C (p.Glu10Gln)	ARHGAP19, ARHGAP19-SLIT1 (E10Q)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 27