GGA2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144327	GRCh38/hg38 16p13.3-11.2(chr16:4644892-29170820)x3	ABAT, ABCC1 +852 more	Copy number gain	See cases	GPathogenic
Select item 58085	GRCh38/hg38 16p13.11-12.1(chr16:14954894-28306843)x3	LOC125146428, LOC125146429 +400 more	Copy number gain	See cases	GPathogenic
Select item 151527	GRCh38/hg38 16p12.2-11.2(chr16:21350622-29202837)x3	APOBR, AQP8 +287 more	Copy number gain	See cases	GLikely pathogenic
Select item 58086	GRCh38/hg38 16p12.2-11.2(chr16:21463739-29249579)x3	LOC130058727, LOC130058728 +287 more	Copy number gain	See cases	GPathogenic
Select item 58734	GRCh38/hg38 16p12.2-12.1(chr16:21600992-28323344)x1	AQP8, ARHGAP17 +209 more	Copy number loss	See cases	GPathogenic
Select item 58099	GRCh38/hg38 16p12.2-11.2(chr16:21602183-29314373)x3	OTOA, PALB2 +280 more	Copy number gain	See cases	GPathogenic
Select item 146289	GRCh38/hg38 16p12.2-11.2(chr16:22634385-29227323)x3	APOBR, AQP8 +233 more	Copy number gain	See cases	GLikely pathogenic
Select item 59987	GRCh38/hg38 16p12.2(chr16:22755932-23546240)x3	LOC130058650, LOC130058651 +23 more	Copy number gain	See cases	GUncertain significance
Select item 58626	GRCh38/hg38 16p12.2-11.2(chr16:23047969-30632245)x3	DCTPP1, DOC2A +409 more	Copy number gain	See cases	GPathogenic
Select item 2295120	NM_015044.4(GGA2):c.1828T>G (p.Leu610Val)	GGA2 (L610V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211993	NM_015044.4(GGA2):c.1805A>C (p.Lys602Thr)	GGA2 (K602T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540962	NM_015044.4(GGA2):c.1775G>C (p.Gly592Ala)	GGA2 (G592A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514035	NM_015044.4(GGA2):c.1764C>A (p.Phe588Leu)	GGA2 (F588L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399498	NM_015044.4(GGA2):c.1764C>G (p.Phe588Leu)	GGA2 (F588L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399461	NM_015044.4(GGA2):c.1741C>T (p.Arg581Cys)	GGA2 (R581C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382848	NM_015044.4(GGA2):c.1738A>G (p.Ile580Val)	GGA2 (I580V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328707	NM_015044.4(GGA2):c.1600T>C (p.Phe534Leu)	GGA2 (F534L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099559	NM_015044.4(GGA2):c.1591G>T (p.Asp531Tyr)	GGA2 (D531Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099558	NM_015044.4(GGA2):c.1585G>C (p.Val529Leu)	GGA2 (V529L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099557	NM_015044.4(GGA2):c.1571C>T (p.Thr524Met)	GGA2 (T524M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308273	NM_015044.4(GGA2):c.1545G>T (p.Gln515His)	GGA2 (Q515H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608022	NM_015044.4(GGA2):c.1425T>A (p.Phe475Leu)	GGA2 (F475L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509953	NM_015044.4(GGA2):c.1304C>T (p.Ser435Leu)	GGA2 (S435L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281289	NM_015044.4(GGA2):c.1283C>T (p.Pro428Leu)	GGA2 (P428L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2598060	NM_015044.4(GGA2):c.1259A>C (p.Asp420Ala)	GGA2 (D420A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281285	NM_015044.4(GGA2):c.1147G>A (p.Val383Ile)	GGA2 (V383I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358278	NM_015044.4(GGA2):c.1141G>A (p.Ala381Thr)	GGA2 (A381T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099556	NM_015044.4(GGA2):c.1094T>G (p.Val365Gly)	GGA2 (V365G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281286	NM_015044.4(GGA2):c.1088C>T (p.Thr363Ile)	GGA2 (T363I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099555	NM_015044.4(GGA2):c.1021G>A (p.Ala341Thr)	GGA2 (A341T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2225352	NM_015044.4(GGA2):c.1001C>T (p.Ser334Phe)	GGA2 (S334F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545674	NM_015044.4(GGA2):c.974C>A (p.Thr325Asn)	GGA2 (T325N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099564	NM_015044.4(GGA2):c.970G>A (p.Val324Met)	GGA2 (V324M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344486	NM_015044.4(GGA2):c.950G>A (p.Arg317Gln)	GGA2 (R317Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099563	NM_015044.4(GGA2):c.949C>T (p.Arg317Trp)	GGA2 (R317W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398458	NM_015044.4(GGA2):c.910A>T (p.Thr304Ser)	GGA2 (T304S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265794	NM_015044.4(GGA2):c.898A>G (p.Asn300Asp)	GGA2 (N300D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375597	NM_015044.4(GGA2):c.881C>T (p.Ala294Val)	GGA2 (A294V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2646321	NM_015044.4(GGA2):c.861T>G (p.Thr287=)	GGA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2594435	NM_015044.4(GGA2):c.848C>T (p.Ala283Val)	GGA2 (A283V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2565880	NM_015044.4(GGA2):c.842G>T (p.Arg281Leu)	GGA2 (R281L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215798	NM_015044.4(GGA2):c.842G>A (p.Arg281Gln)	GGA2 (R281Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367441	NM_015044.4(GGA2):c.833C>T (p.Thr278Met)	GGA2 (T278M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556359	NM_015044.4(GGA2):c.827G>A (p.Arg276Gln)	GGA2 (R276Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620544	NM_015044.4(GGA2):c.806A>T (p.Tyr269Phe)	GGA2 (Y269F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099562	NM_015044.4(GGA2):c.749G>C (p.Ser250Thr)	GGA2 (S250T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2646322	NM_015044.4(GGA2):c.714G>A (p.Val238=)	GGA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2305188	NM_015044.4(GGA2):c.701C>T (p.Ala234Val)	GGA2 (A234V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528627	NM_015044.4(GGA2):c.651G>T (p.Leu217Phe)	GGA2 (L217F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328022	NM_015044.4(GGA2):c.647A>G (p.Asn216Ser)	GGA2 (N216S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281287	NM_015044.4(GGA2):c.550A>G (p.Ile184Val)	GGA2 (I184V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379069	NM_015044.4(GGA2):c.494C>T (p.Pro165Leu)	GGA2 (P165L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401360	NM_015044.4(GGA2):c.446G>A (p.Arg149Gln)	GGA2 (R149Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358331	NM_015044.4(GGA2):c.430G>C (p.Glu144Gln)	GGA2 (E144Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099560	NM_015044.4(GGA2):c.407T>A (p.Phe136Tyr)	GGA2 (F136Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617169	NM_015044.4(GGA2):c.379G>A (p.Val127Ile)	GGA2 (V127I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1342459	NM_015044.4(GGA2):c.298G>A (p.Glu100Lys)	GGA2 (E100K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3281288	NM_015044.4(GGA2):c.251C>T (p.Thr84Met)	GGA2 (T84M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319583	NM_015044.4(GGA2):c.163A>G (p.Thr55Ala)	GGA2 (T55A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295119	NM_015044.4(GGA2):c.113T>A (p.Met38Lys)	GGA2 (M38K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491725	NM_015044.4(GGA2):c.85T>G (p.Trp29Gly)	GGA2, LOC130058660 (W29G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344074	NM_015044.4(GGA2):c.55C>T (p.Pro19Ser)	GGA2 (P19S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515412	NM_015044.4(GGA2):c.52G>A (p.Gly18Ser)	GGA2 (G18S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 318507	NM_001083614.2(EARS2):c.*2309G>A	EARS2, GGA2	Single nucleotide variant (3 prime UTR variant +1 more)	Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome	GUncertain significance
Select item 318508	NM_001083614.2(EARS2):c.*2294T>C	EARS2, GGA2	Single nucleotide variant (3 prime UTR variant +1 more)	Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome	GBenign
Select item 318509	NM_001083614.2(EARS2):c.*2193A>G	GGA2, EARS2	Single nucleotide variant (3 prime UTR variant +1 more)	Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome	GUncertain significance
Select item 318510	NM_001083614.2(EARS2):c.*2156T>G	EARS2, GGA2	Single nucleotide variant (3 prime UTR variant +1 more)	Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome +1 more	GBenign
Select item 318511	NM_001083614.2(EARS2):c.*2105C>G	EARS2, GGA2	Single nucleotide variant (non-coding transcript variant +1 more)	Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome	GLikely benign
Select item 885046	NM_001083614.2(EARS2):c.*1904A>G	GGA2, EARS2	Single nucleotide variant (3 prime UTR variant +1 more)	Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome	GUncertain significance
Select item 318512	NM_001083614.2(EARS2):c.*1902dup	EARS2, GGA2	Duplication (3 prime UTR variant +1 more)	Combined oxidative phosphorylation deficiency	GUncertain significance
Select item 885047	NM_001083614.2(EARS2):c.*1902A>C	EARS2, GGA2	Single nucleotide variant (3 prime UTR variant +1 more)	Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome	GUncertain significance
Select item 318513	NM_001083614.2(EARS2):c.*1809T>C	EARS2, GGA2	Single nucleotide variant (3 prime UTR variant +1 more)	Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome	GUncertain significance
Select item 318514	NM_001083614.2(EARS2):c.*1808G>A	EARS2, GGA2	Single nucleotide variant (3 prime UTR variant +1 more)	Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome	GUncertain significance
Select item 318515	NM_001083614.2(EARS2):c.*1720G>A	EARS2, GGA2	Single nucleotide variant (3 prime UTR variant +1 more)	Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome	GUncertain significance
Select item 885965	NM_001083614.2(EARS2):c.*1647C>T	EARS2, GGA2	Single nucleotide variant (3 prime UTR variant +1 more)	Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome	GUncertain significance
Select item 318516	NM_001083614.2(EARS2):c.*1594C>T	EARS2, GGA2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 318517	NM_001083614.2(EARS2):c.*1498A>G	EARS2, GGA2	Single nucleotide variant (non-coding transcript variant +1 more)	Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome	GBenign
Select item 318518	NM_001083614.2(EARS2):c.*1443C>G	EARS2, GGA2	Single nucleotide variant (3 prime UTR variant +1 more)	Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome +1 more	GBenign
Select item 318519	NM_001083614.2(EARS2):c.*1435C>A	EARS2, GGA2	Single nucleotide variant (3 prime UTR variant +1 more)	Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome	GUncertain significance
Select item 318520	NM_001083614.2(EARS2):c.*1408A>G	EARS2, GGA2	Single nucleotide variant (non-coding transcript variant +1 more)	Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome	GUncertain significance
Select item 318521	NM_001083614.2(EARS2):c.*1388C>T	EARS2, GGA2	Single nucleotide variant (3 prime UTR variant +1 more)	Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome	GBenign
Select item 886967	NM_001083614.2(EARS2):c.*1362T>C	EARS2, GGA2	Single nucleotide variant (3 prime UTR variant +1 more)	Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome	GBenign
Select item 318522	NM_001083614.2(EARS2):c.*1327A>G	EARS2, GGA2	Single nucleotide variant (3 prime UTR variant +1 more)	Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome +1 more	GLikely benign
Select item 318523	NM_001083614.2(EARS2):c.*1233C>T	EARS2, GGA2	Single nucleotide variant (3 prime UTR variant +1 more)	Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome	GBenign
Select item 318524	NM_001083614.2(EARS2):c.*1138G>A	EARS2, GGA2	Single nucleotide variant (3 prime UTR variant +1 more)	Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome	GUncertain significance
Select item 318525	NM_001083614.2(EARS2):c.*1099A>G	GGA2, EARS2	Single nucleotide variant (3 prime UTR variant +1 more)	Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome	GBenign
Select item 886968	NM_001083614.2(EARS2):c.*1082T>C	EARS2, GGA2	Single nucleotide variant (3 prime UTR variant +1 more)	Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome	GUncertain significance
Select item 318526	NM_001083614.2(EARS2):c.*1048del	EARS2, GGA2	Deletion (3 prime UTR variant +1 more)	Combined oxidative phosphorylation deficiency	GUncertain significance
Select item 888230	NM_001083614.2(EARS2):c.*1027G>A	EARS2, GGA2	Single nucleotide variant (3 prime UTR variant +1 more)	Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome	GUncertain significance
Select item 888231	NM_001083614.2(EARS2):c.*966G>C	EARS2, GGA2	Single nucleotide variant (3 prime UTR variant +1 more)	Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome	GUncertain significance
Select item 888232	NM_001083614.2(EARS2):c.*936T>C	GGA2, EARS2	Single nucleotide variant (3 prime UTR variant)	Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome	GUncertain significance
Select item 318527	NM_001083614.2(EARS2):c.*917C>T	EARS2, GGA2	Single nucleotide variant (3 prime UTR variant)	Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome	GUncertain significance
Select item 318528	NM_001083614.2(EARS2):c.*914T>A	EARS2, GGA2	Single nucleotide variant (3 prime UTR variant)	Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome	GUncertain significance
Select item 888233	NM_001083614.2(EARS2):c.*824G>A	EARS2, GGA2	Single nucleotide variant (3 prime UTR variant +1 more)	Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome	GUncertain significance
Select item 888234	NM_001083614.2(EARS2):c.*755C>T	EARS2, GGA2	Single nucleotide variant (3 prime UTR variant +1 more)	Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome	GBenign
Select item 318529	NM_001083614.2(EARS2):c.*715G>A	EARS2, GGA2	Single nucleotide variant (3 prime UTR variant +1 more)	Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome	GBenign
Select item 318530	NM_001083614.2(EARS2):c.*713T>C	EARS2, GGA2	Single nucleotide variant (3 prime UTR variant +1 more)	Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome	GUncertain significance
Select item 885120	NM_001083614.2(EARS2):c.*637A>G	EARS2, GGA2	Single nucleotide variant (3 prime UTR variant +1 more)	Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome	GUncertain significance
Select item 885121	NM_001083614.2(EARS2):c.*555G>A	GGA2, EARS2	Single nucleotide variant (3 prime UTR variant +1 more)	Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome	GLikely benign
Select item 318531	NM_001083614.2(EARS2):c.*535dup	EARS2, GGA2	Duplication (3 prime UTR variant +1 more)	Combined oxidative phosphorylation deficiency	GUncertain significance

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