ClinVar for Gene (Select 22954) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3384692	NM_012210.4(TRIM32):c.564T>A (p.Tyr188Ter)	ASTN2, TRIM32 (Y188*)	Single nucleotide variant (nonsense +1 more)	Autosomal recessive limb-girdle muscular dystrophy	GPathogenic
Select item 3382614	NM_012210.4(TRIM32):c.1872_1875dup (p.Pro626fs)	ASTN2, TRIM32 (P626fs)	Duplication (frameshift variant +1 more)	Sarcotubular myopathy +1 more	GUncertain significance
Select item 3358623	NM_012210.4(TRIM32):c.-5G>T	ASTN2, TRIM32	Single nucleotide variant (5 prime UTR variant +1 more)	TRIM32-related disorder	GLikely benign
Select item 3356847	NM_012210.4(TRIM32):c.967A>G (p.Arg323Gly)	ASTN2, TRIM32 (R323G)	Single nucleotide variant (missense variant +1 more)	TRIM32-related disorder	GUncertain significance
Select item 3355947	NM_012210.4(TRIM32):c.435G>T (p.Arg145=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	TRIM32-related disorder	GLikely benign
Select item 3355312	NM_012210.4(TRIM32):c.942T>G (p.Ser314=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	TRIM32-related disorder	GLikely benign
Select item 3353900	NM_012210.4(TRIM32):c.522C>T (p.Ser174=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	TRIM32-related disorder	GLikely benign
Select item 3353614	NM_012210.4(TRIM32):c.968G>T (p.Arg323Ile)	ASTN2, TRIM32 (R323I)	Single nucleotide variant (missense variant +1 more)	TRIM32-related disorder	GUncertain significance
Select item 3351795	NM_012210.4(TRIM32):c.1323G>A (p.Leu441=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	TRIM32-related disorder	GLikely benign
Select item 3351635	NM_012210.4(TRIM32):c.1030C>T (p.Arg344Trp)	ASTN2, TRIM32 (R344W)	Single nucleotide variant (missense variant +1 more)	TRIM32-related disorder	GUncertain significance
Select item 3350324	NM_012210.4(TRIM32):c.1345G>A (p.Asp449Asn)	ASTN2, TRIM32 (D449N)	Single nucleotide variant (missense variant +1 more)	TRIM32-related disorder	GUncertain significance
Select item 3349656	NM_012210.4(TRIM32):c.1469G>A (p.Gly490Asp)	ASTN2, TRIM32 (G490D)	Single nucleotide variant (missense variant +1 more)	TRIM32-related disorder	GUncertain significance
Select item 3349221	NM_012210.4(TRIM32):c.283G>C (p.Val95Leu)	ASTN2, TRIM32 (V95L)	Single nucleotide variant (missense variant +1 more)	TRIM32-related disorder	GUncertain significance
Select item 3348829	NM_012210.4(TRIM32):c.860G>A (p.Gly287Asp)	ASTN2, TRIM32 (G287D)	Single nucleotide variant (missense variant +1 more)	TRIM32-related disorder	GUncertain significance
Select item 3348806	NM_012210.4(TRIM32):c.1502G>T (p.Gly501Val)	ASTN2, TRIM32 (G501V)	Single nucleotide variant (missense variant +1 more)	TRIM32-related disorder	GUncertain significance
Select item 3348601	NM_012210.4(TRIM32):c.1466A>G (p.Glu489Gly)	ASTN2, TRIM32 (E489G)	Single nucleotide variant (missense variant +1 more)	TRIM32-related disorder	GUncertain significance
Select item 3347696	NM_012210.4(TRIM32):c.417A>G (p.Lys139=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	TRIM32-related disorder	GLikely benign
Select item 3346443	NM_012210.4(TRIM32):c.1156C>T (p.Leu386=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	TRIM32-related disorder	GLikely benign
Select item 3345418	NM_012210.4(TRIM32):c.512A>G (p.Glu171Gly)	ASTN2, TRIM32 (E171G)	Single nucleotide variant (missense variant +1 more)	TRIM32-related disorder	GUncertain significance
Select item 3344714	NM_012210.4(TRIM32):c.1555G>T (p.Val519Phe)	ASTN2, TRIM32 (V519F)	Single nucleotide variant (missense variant +1 more)	TRIM32-related disorder	GUncertain significance
Select item 3344704	NM_012210.4(TRIM32):c.301C>T (p.Arg101Trp)	ASTN2, TRIM32 (R101W)	Single nucleotide variant (missense variant +1 more)	TRIM32-related disorder	GUncertain significance
Select item 3344703	NM_012210.4(TRIM32):c.1289C>T (p.Thr430Ile)	ASTN2, TRIM32 (T430I)	Single nucleotide variant (missense variant +1 more)	TRIM32-related disorder	GUncertain significance
Select item 3328701	NM_012210.4(TRIM32):c.872T>C (p.Ile291Thr)	ASTN2, TRIM32 (I291T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3328700	NM_012210.4(TRIM32):c.658G>A (p.Val220Met)	ASTN2, TRIM32 (V220M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3245165	NC_000009.11:g.(?_119461485)_(119475606_?)del	ASTN2, TRIM32	Deletion	Bardet-Biedl syndrome	GUncertain significance
Select item 3245164	NC_000009.11:g.(?_119460022)_(119495822_?)del	ASTN2, TRIM32	Deletion	Bardet-Biedl syndrome	GPathogenic
Select item 3182377	NM_012210.4(TRIM32):c.457T>A (p.Leu153Ile)	ASTN2, TRIM32 (L153I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3182376	NM_012210.4(TRIM32):c.323C>T (p.Pro108Leu)	ASTN2, TRIM32 (P108L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3063090	GRCh37/hg19 9q33.1(chr9:119378438-119499035)x1	ASTN2, TRIM32	Copy number loss	not specified	GUncertain significance
Select item 3063072	GRCh37/hg19 9q33.1(chr9:119449856-119593736)x1	ASTN2, TRIM32	Copy number loss	not specified	GUncertain significance
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	DMAC1, DMRT1 +769 more	Copy number gain	not specified	GPathogenic
Select item 3063064	GRCh37/hg19 9q33.1(chr9:119431587-119475882)x1	ASTN2, TRIM32	Copy number loss	not specified	GPathogenic
Select item 3035125	NM_012210.4(TRIM32):c.757C>T (p.Leu253=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	TRIM32-related disorder	GLikely benign
Select item 3031578	NM_012210.4(TRIM32):c.1663G>T (p.Val555Leu)	ASTN2, TRIM32 (V555L)	Single nucleotide variant (missense variant +1 more)	TRIM32-related disorder	GUncertain significance
Select item 3030784	NM_012210.4(TRIM32):c.647C>G (p.Ser216Cys)	ASTN2, TRIM32 (S216C)	Single nucleotide variant (missense variant +1 more)	TRIM32-related disorder	GUncertain significance
Select item 3029594	NM_012210.4(TRIM32):c.-6A>G	ASTN2, TRIM32	Single nucleotide variant (5 prime UTR variant +1 more)	TRIM32-related disorder	GLikely benign
Select item 3024646	GRCh37/hg19 9q33.1(chr9:119278687-121653529)x3	ASTN2, TLR4 +1 more	Copy number gain	not provided	GUncertain significance
Select item 3022723	NM_012210.4(TRIM32):c.1491A>G (p.Thr497=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 3020466	NM_012210.4(TRIM32):c.663A>C (p.Val221=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 3017874	NM_012210.4(TRIM32):c.1218A>G (p.Glu406=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 3017140	NM_012210.4(TRIM32):c.1499G>A (p.Arg500Gln)	ASTN2, TRIM32 (R500Q)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome	GUncertain significance
Select item 3010391	NM_012210.4(TRIM32):c.1569T>C (p.Ala523=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 3009107	NM_012210.4(TRIM32):c.1515C>T (p.Val505=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 3003160	NM_012210.4(TRIM32):c.1740C>G (p.Gly580=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 3003159	NM_012210.4(TRIM32):c.1638G>A (p.Leu546=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 3002206	NM_012210.4(TRIM32):c.1899G>A (p.Leu633=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2999629	NM_012210.4(TRIM32):c.1263C>T (p.Phe421=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2999586	NM_012210.4(TRIM32):c.1125C>T (p.Val375=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2996924	NM_012210.4(TRIM32):c.597G>A (p.Leu199=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2988750	NM_012210.4(TRIM32):c.154T>C (p.Leu52=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2987058	NM_012210.4(TRIM32):c.27G>T (p.Leu9=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2978046	NM_012210.4(TRIM32):c.1173T>C (p.Gly391=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2959050	NM_012210.4(TRIM32):c.1464G>A (p.Val488=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2954868	NM_012210.4(TRIM32):c.240G>C (p.Leu80=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2914129	NM_012210.4(TRIM32):c.1677G>A (p.Gly559=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2913518	NM_012210.4(TRIM32):c.27G>A (p.Leu9=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2912578	NM_012210.4(TRIM32):c.510G>A (p.Leu170=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2911041	NM_012210.4(TRIM32):c.243A>G (p.Thr81=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2908560	NM_012210.4(TRIM32):c.826C>T (p.Gln276Ter)	ASTN2, TRIM32 (Q276*)	Single nucleotide variant (nonsense +1 more)	Bardet-Biedl syndrome	GPathogenic
Select item 2900160	NM_012210.4(TRIM32):c.242C>T (p.Thr81Ile)	ASTN2, TRIM32 (T81I)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome	GUncertain significance
Select item 2900104	NM_012210.4(TRIM32):c.1059G>A (p.Gln353=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2899637	NM_012210.4(TRIM32):c.471G>A (p.Arg157=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2894496	NM_012210.4(TRIM32):c.468G>T (p.Leu156=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2889519	NM_012210.4(TRIM32):c.363G>A (p.Glu121=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2888396	NM_012210.4(TRIM32):c.1527C>T (p.Cys509=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2870901	NM_012210.4(TRIM32):c.1087del (p.Ala363fs)	ASTN2, TRIM32 (A363fs)	Deletion (frameshift variant +1 more)	Bardet-Biedl syndrome	GPathogenic
Select item 2866183	NM_012210.4(TRIM32):c.351G>A (p.Leu117=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2865358	NM_012210.4(TRIM32):c.1719G>A (p.Glu573=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2862430	NM_012210.4(TRIM32):c.780G>A (p.Glu260=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2861656	NM_012210.4(TRIM32):c.42C>A (p.Leu14=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2860248	NM_012210.4(TRIM32):c.1386G>T (p.Val462=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2859590	NM_012210.4(TRIM32):c.1512G>C (p.Val504=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2859528	NM_012210.4(TRIM32):c.1221C>A (p.Ile407=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2857457	NM_012210.4(TRIM32):c.753A>C (p.Val251=)	TRIM32, ASTN2	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2856342	NM_012210.4(TRIM32):c.1506A>G (p.Ser502=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2856065	NM_012210.4(TRIM32):c.909G>C (p.Val303=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2850071	NM_012210.4(TRIM32):c.792G>A (p.Glu264=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2849696	NM_012210.4(TRIM32):c.1443C>A (p.Gly481=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2849031	NM_012210.4(TRIM32):c.723C>T (p.Tyr241=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2848483	NM_012210.4(TRIM32):c.894C>G (p.Pro298=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2846291	NM_012210.4(TRIM32):c.1611G>T (p.Leu537=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2845784	NM_012210.4(TRIM32):c.1872A>G (p.Leu624=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2845594	NM_012210.4(TRIM32):c.624C>A (p.Gly208=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2841884	NM_012210.4(TRIM32):c.924C>A (p.Ala308=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2838730	NM_012210.4(TRIM32):c.1758T>C (p.Arg586=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2835521	NM_012210.4(TRIM32):c.267T>C (p.Ala89=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2832965	NM_012210.4(TRIM32):c.624C>T (p.Gly208=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2828724	NM_012210.4(TRIM32):c.1030C>A (p.Arg344=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2821429	NM_012210.4(TRIM32):c.957T>C (p.Ser319=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2820674	NM_012210.4(TRIM32):c.111G>A (p.Leu37=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2818852	NM_012210.4(TRIM32):c.1888C>T (p.Leu630=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2817939	NM_012210.4(TRIM32):c.1458C>G (p.Thr486=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2815889	NM_012210.4(TRIM32):c.1563dup (p.Asp522Ter)	ASTN2, TRIM32 (D522*)	Duplication (nonsense +1 more)	Bardet-Biedl syndrome	GPathogenic
Select item 2814885	NM_012210.4(TRIM32):c.1602C>T (p.Gly534=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2814669	NM_012210.4(TRIM32):c.1437A>G (p.Pro479=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2814310	NM_012210.4(TRIM32):c.1314C>T (p.Cys438=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2813433	NM_012210.4(TRIM32):c.498del (p.Lys167fs)	ASTN2, TRIM32 (K167fs)	Deletion (frameshift variant +1 more)	Bardet-Biedl syndrome	GPathogenic
Select item 2811384	NM_012210.4(TRIM32):c.201del (p.Thr68fs)	ASTN2, TRIM32 (T68fs)	Deletion (frameshift variant +1 more)	Bardet-Biedl syndrome	GPathogenic
Select item 2804891	NM_012210.4(TRIM32):c.763G>T (p.Glu255Ter)	ASTN2, TRIM32 (E255*)	Single nucleotide variant (nonsense +1 more)	Bardet-Biedl syndrome	GPathogenic
Select item 2802244	NM_012210.4(TRIM32):c.654T>C (p.Ser218=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign

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