"Ambry Genetics"[submitter] AND "GRTP1"[gene] - ClinVar

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Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2367122	NM_024719.4(GRTP1):c.991C>T (p.Arg331Trp)	GRTP1 (R331W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617271	NM_024719.4(GRTP1):c.968A>G (p.Lys323Arg)	GRTP1 (K323R)	Single nucleotide variant (synonymous variant +2 more)	not specified	GLikely benign
Select item 2520210	NM_024719.4(GRTP1):c.965C>T (p.Ala322Val)	GRTP1 (A322V)	Single nucleotide variant (synonymous variant +2 more)	not specified	GUncertain significance
Select item 3102749	NM_024719.4(GRTP1):c.914T>C (p.Phe305Ser)	GRTP1 (F305S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2333781	NM_024719.4(GRTP1):c.911C>T (p.Thr304Met)	GRTP1 (T304M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2555832	NM_024719.4(GRTP1):c.878T>C (p.Ile293Thr)	GRTP1 (I215T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2207539	NM_024719.4(GRTP1):c.864T>G (p.Asp288Glu)	GRTP1 (D210E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3102748	NM_024719.4(GRTP1):c.815A>C (p.Gln272Pro)	GRTP1 (Q194P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3102746	NM_024719.4(GRTP1):c.772G>T (p.Gly258Cys)	GRTP1 (G180C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2245449	NM_024719.4(GRTP1):c.716T>C (p.Val239Ala)	GRTP1 (V161A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3102745	NM_024719.4(GRTP1):c.695G>A (p.Arg232His)	GRTP1 (R154H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2529935	NM_024719.4(GRTP1):c.686T>A (p.Leu229Gln)	GRTP1 (L229Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2249173	NM_024719.4(GRTP1):c.667G>A (p.Gly223Ser)	GRTP1 (G145S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2526787	NM_024719.4(GRTP1):c.662G>A (p.Arg221His)	GRTP1 (R143H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2546157	NM_024719.4(GRTP1):c.640G>C (p.Ala214Pro)	GRTP1 (A214P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2507823	NM_024719.4(GRTP1):c.629C>T (p.Ala210Val)	GRTP1 (A132V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2221690	NM_024719.4(GRTP1):c.626G>A (p.Arg209Gln)	GRTP1 (R209Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3282916	NM_024719.4(GRTP1):c.625C>T (p.Arg209Trp)	GRTP1 (R209W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2371898	NM_024719.4(GRTP1):c.613G>C (p.Gly205Arg)	GRTP1 (G127R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3282922	NM_024719.4(GRTP1):c.439C>T (p.His147Tyr)	GRTP1 (H147Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282917	NM_024719.4(GRTP1):c.419T>C (p.Val140Ala)	GRTP1 (V62A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102743	NM_024719.4(GRTP1):c.416A>G (p.Asn139Ser)	GRTP1 (N61S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480240	NM_024719.4(GRTP1):c.415A>G (p.Asn139Asp)	GRTP1 (N139D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260095	NM_024719.4(GRTP1):c.386C>T (p.Thr129Met)	GRTP1 (T129M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395606	NM_024719.4(GRTP1):c.376C>T (p.Arg126Trp)	GRTP1 (R48W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282920	NM_024719.4(GRTP1):c.367G>A (p.Val123Met)	GRTP1 (V123M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102742	NM_024719.4(GRTP1):c.325G>A (p.Asp109Asn)	GRTP1, GRTP1-AS1 (D109N +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3102741	NM_024719.4(GRTP1):c.306G>C (p.Glu102Asp)	GRTP1, GRTP1-AS1 (E102D +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 3102740	NM_024719.4(GRTP1):c.277G>A (p.Gly93Ser)	GRTP1, GRTP1-AS1 (G15S +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3282918	NM_024719.4(GRTP1):c.219C>G (p.His73Gln)	GRTP1, GRTP1-AS1 (H73Q)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2332772	NM_024719.4(GRTP1):c.160G>C (p.Gly54Arg)	GRTP1, LOC124946345 (G54R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102739	NM_024719.4(GRTP1):c.122G>T (p.Arg41Leu)	GRTP1, LOC124946345 (R41L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3282919	NM_024719.4(GRTP1):c.98C>A (p.Ser33Tyr)	GRTP1, LOC124946345 (S33Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2283079	NM_024719.4(GRTP1):c.74A>C (p.Asp25Ala)	GRTP1, LOC124946345 (D25A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 34