ClinVar for Gene (Select 23329) - ClinVar

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Links from Gene

Items: 51

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3235055	GRCh38/hg38 12q14.2-15(chr12:63871239-67314524)	LOC124629394, LOC124629395 +108 more	Copy number loss	Silver-Russell syndrome 5	GUncertain significance
Select item 3174610	NM_015279.2(TBC1D30):c.998T>C (p.Met333Thr)	TBC1D30 (M219T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174608	NM_015279.2(TBC1D30):c.2156G>A (p.Arg719Gln)	TBC1D30 (R719Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174607	NM_015279.2(TBC1D30):c.2033G>A (p.Cys678Tyr)	TBC1D30 (C678Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174606	NM_015279.2(TBC1D30):c.1888A>G (p.Arg630Gly)	TBC1D30 (R606G +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3174605	NM_015279.2(TBC1D30):c.1367G>A (p.Ser456Asn)	TBC1D30 (S342N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174604	NM_015279.2(TBC1D30):c.1100C>A (p.Thr367Asn)	TBC1D30 (T367N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685437	GRCh37/hg19 12q14.1-15(chr12:61755618-70035424)x1	AVPR1A, C12orf56 +40 more	Copy number loss	not provided	GPathogenic
Select item 2643163	NM_015279.2(TBC1D30):c.498C>T (p.Ala166=)	TBC1D30	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2596579	NM_015279.2(TBC1D30):c.2029C>T (p.Pro677Ser)	TBC1D30 (P563S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547528	NM_015279.2(TBC1D30):c.1213G>A (p.Val405Ile)	TBC1D30 (V405I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517434	NM_015279.2(TBC1D30):c.750C>G (p.Asn250Lys)	TBC1D30 (N136K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479756	NM_015279.2(TBC1D30):c.1690C>T (p.Pro564Ser)	TBC1D30 (P450S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466453	NM_015279.2(TBC1D30):c.2149C>T (p.Pro717Ser)	TBC1D30 (P693S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465839	NM_015279.2(TBC1D30):c.1651C>T (p.Pro551Ser)	TBC1D30 (P527S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459688	NM_015279.2(TBC1D30):c.1709G>A (p.Arg570Gln)	TBC1D30 (R546Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425940	NC_000012.11:g.(?_64849651)_(65857102_?)del	GNS, LEMD3 +5 more	Deletion	not provided	GPathogenic
Select item 2411200	NM_015279.2(TBC1D30):c.1268A>C (p.Gln423Pro)	TBC1D30 (Q309P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374929	NM_015279.2(TBC1D30):c.799A>G (p.Met267Val)	TBC1D30 (M267V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373075	NM_015279.2(TBC1D30):c.1784A>T (p.Gln595Leu)	TBC1D30 (Q595L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354809	NM_015279.2(TBC1D30):c.632G>A (p.Ser211Asn)	TBC1D30 (S211N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347847	NM_015279.2(TBC1D30):c.2054C>T (p.Pro685Leu)	TBC1D30 (P661L +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2346618	NM_015279.2(TBC1D30):c.1375C>T (p.His459Tyr)	TBC1D30 (H459Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342234	NM_015279.2(TBC1D30):c.2057C>T (p.Pro686Leu)	TBC1D30 (P662L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340429	NM_015279.2(TBC1D30):c.569A>G (p.Glu190Gly)	TBC1D30 (E76G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332419	NM_015279.2(TBC1D30):c.431G>A (p.Ser144Asn)	TBC1D30 (S30N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330403	NM_015279.2(TBC1D30):c.1150G>C (p.Gly384Arg)	TBC1D30 (G384R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329515	NM_015279.2(TBC1D30):c.694A>G (p.Arg232Gly)	TBC1D30 (R118G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307954	NM_015279.2(TBC1D30):c.2093C>T (p.Ala698Val)	TBC1D30 (A584V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299652	NM_015279.2(TBC1D30):c.1843A>G (p.Thr615Ala)	TBC1D30 (T501A +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2281252	NM_015279.2(TBC1D30):c.1534G>A (p.Val512Ile)	TBC1D30 (V512I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2276397	NM_015279.2(TBC1D30):c.785C>T (p.Thr262Ile)	TBC1D30 (T148I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271314	NM_015279.2(TBC1D30):c.70G>A (p.Val24Met)	TBC1D30 (V24M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2271160	NM_015279.2(TBC1D30):c.628G>A (p.Glu210Lys)	TBC1D30 (E210K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226158	NM_015279.2(TBC1D30):c.1436G>A (p.Arg479Gln)	TBC1D30 (R479Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225379	NM_015279.2(TBC1D30):c.344T>C (p.Met115Thr)	TBC1D30 (M1T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2211103	NM_015279.2(TBC1D30):c.1726A>C (p.Met576Leu)	TBC1D30 (M462L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1879249	GRCh37/hg19 12q14.2-15(chr12:64609458-70352103)x1	YEATS4, C12orf56 +34 more	Copy number loss	not provided	GPathogenic
Select item 1287064	NM_001330187.2(TBC1D30):c.-470AGAAAAGGGCGGAGAACCGG[2]	TBC1D30, GNS	Microsatellite (5 prime UTR variant)	not provided	GBenign
Select item 1269458	NM_001330187.2(TBC1D30):c.-532T>C	GNS, TBC1D30	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1235217	NM_015279.2(TBC1D30):c.1765G>A (p.Val589Ile)	TBC1D30 (V475I +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1180525	GRCh37/hg19 12q14.3-21.1(chr12:65251705-75263379)x1	CAND1, RAB3IP +42 more	Copy number loss	not provided	GPathogenic
Select item 815532	GRCh37/hg19 12q14.2-14.3(chr12:65029704-65589195)x3	RASSF3, LEMD3 +3 more	Copy number gain	not provided	GUncertain significance
Select item 768564	NM_015279.2(TBC1D30):c.1152-7T>A	TBC1D30	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 688290	GRCh37/hg19 12q14.3(chr12:65101139-65326483)x3	GNS, TBC1D30	Copy number gain	not provided	GUncertain significance
Select item 560243	NM_015279.2(TBC1D30):c.595-1G>T	TBC1D30	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	DBX2, DCD +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	AGAP2, ARF3 +1007 more	Copy number gain	See cases	GPathogenic
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC130008916, LOC130008917 +4836 more	Copy number gain	See cases	GPathogenic
Select item 150076	GRCh38/hg38 12q14.1-14.3(chr12:60907151-66568077)x1	AVPR1A, C12orf56 +144 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 51