"Ambry Genetics"[submitter] AND "DRP2"[gene] - ClinVar

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Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3007102	NM_001939.3(DRP2):c.29C>T (p.Pro10Leu)	DRP2 (P10L)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 3085836	NM_001939.3(DRP2):c.62C>A (p.Ala21Glu)	DRP2 (A21E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3273778	NM_001939.3(DRP2):c.130G>T (p.Val44Phe)	DRP2 (V44F)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2550406	NM_001939.3(DRP2):c.148C>G (p.Pro50Ala)	DRP2 (P50A)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 1936331	NM_001939.3(DRP2):c.173G>A (p.Cys58Tyr)	DRP2 (C58Y)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 1979772	NM_001939.3(DRP2):c.176T>G (p.Leu59Arg)	DRP2 (L59R)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +1 more	GUncertain significance
Select item 2252297	NM_001939.3(DRP2):c.196G>A (p.Gly66Arg)	DRP2 (G66R)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 1913861	NM_001939.3(DRP2):c.197G>A (p.Gly66Glu)	DRP2 (G66E)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 1406151	NM_001939.3(DRP2):c.217C>A (p.Pro73Thr)	DRP2 (P73T)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 1374840	NM_001939.3(DRP2):c.217C>G (p.Pro73Ala)	DRP2 (P73A)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 2166543	NM_001939.3(DRP2):c.283G>A (p.Ala95Thr)	DRP2 (A17T +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1411400	NM_001939.3(DRP2):c.484G>C (p.Val162Leu)	DRP2 (V162L +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3273777	NM_001939.3(DRP2):c.569C>T (p.Pro190Leu)	DRP2 (P112L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2416748	NM_001939.3(DRP2):c.596G>A (p.Arg199His)	DRP2 (R121H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2046222	NM_001939.3(DRP2):c.614C>T (p.Ala205Val)	DRP2 (A127V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 870772	NM_001939.3(DRP2):c.653G>A (p.Arg218His)	DRP2 (R140H +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1497500	NM_001939.3(DRP2):c.670C>T (p.Arg224Cys)	DRP2 (R224C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1393781	NM_001939.3(DRP2):c.671G>A (p.Arg224His)	DRP2 (R146H +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3085837	NM_001939.3(DRP2):c.733A>G (p.Thr245Ala)	DRP2 (T245A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085838	NM_001939.3(DRP2):c.821C>G (p.Ala274Gly)	DRP2 (A196G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225020	NM_001939.3(DRP2):c.1169A>G (p.Gln390Arg)	DRP2 (Q312R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314958	NM_001939.3(DRP2):c.1232G>A (p.Arg411Lys)	DRP2 (R411K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295728	NM_001939.3(DRP2):c.1285A>C (p.Ile429Leu)	DRP2 (I351L +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2983194	NM_001939.3(DRP2):c.1292A>G (p.Asn431Ser)	DRP2 (N353S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2545667	NM_001939.3(DRP2):c.1422G>A (p.Met474Ile)	DRP2 (M396I +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1587248	NM_001939.3(DRP2):c.1517C>T (p.Thr506Met)	DRP2 (T428M +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2595777	NM_001939.3(DRP2):c.1628G>A (p.Arg543His)	DRP2 (R465H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085833	NM_001939.3(DRP2):c.1672C>G (p.Pro558Ala)	DRP2 (P480A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1399802	NM_001939.3(DRP2):c.1682G>A (p.Arg561His)	DRP2 (R483H +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1907668	NM_001939.3(DRP2):c.1693C>T (p.Arg565Cys)	DRP2 (R565C +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2223918	NM_001939.3(DRP2):c.1799T>A (p.Ile600Asn)	DRP2 (I600N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 547091	NM_001939.3(DRP2):c.1927G>A (p.Ala643Thr)	DRP2 (A643T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2476347	NM_001939.3(DRP2):c.2068G>A (p.Gly690Ser)	DRP2 (G612S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2456908	NM_001939.3(DRP2):c.2129C>T (p.Pro710Leu)	DRP2 (P632L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2900625	NM_001939.3(DRP2):c.2294G>A (p.Arg765Gln)	DRP2 (R765Q +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3085835	NM_001939.3(DRP2):c.2492G>T (p.Arg831Leu)	DRP2 (R831L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480476	NM_001939.3(DRP2):c.2503C>T (p.Leu835Phe)	DRP2 (L757F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292056	NM_001939.3(DRP2):c.2510C>A (p.Ala837Asp)	DRP2 (A837D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1373087	NM_001939.3(DRP2):c.2563A>T (p.Ile855Phe)	DRP2 (I855F +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2609593	NM_001939.3(DRP2):c.2632C>T (p.Pro878Ser)	DRP2 (P800S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1388458	NM_001939.3(DRP2):c.2666C>T (p.Ser889Leu)	DRP2 (S811L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2472211	NM_001939.3(DRP2):c.2719G>A (p.Gly907Arg)	DRP2 (G907R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263069	NM_001939.3(DRP2):c.2734G>T (p.Asp912Tyr)	DRP2 (D912Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295004	NM_001939.3(DRP2):c.2780G>A (p.Ser927Asn)	DRP2 (S849N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1991265	NM_001939.3(DRP2):c.2812C>T (p.Arg938Cys)	DRP2 (R860C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance

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Items: 45