TTC32[gene] - ClinVar

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Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153520	GRCh38/hg38 2p25.3-23.3(chr2:12770-25039694)x3	ATAD2B, ATP6V1C2 +653 more	Copy number gain	See cases	GPathogenic
Select item 153441	GRCh38/hg38 2p25.3-22.3(chr2:12770-33711509)x3	ABHD1, ACP1 +1047 more	Copy number gain	See cases	GPathogenic
Select item 152693	GRCh38/hg38 2p25.3-24.1(chr2:17019-20001056)x3	ACP1, ADAM17 +498 more	Copy number gain	See cases	GPathogenic
Select item 148269	GRCh38/hg38 2p25.3-23.3(chr2:17019-26318846)x3	LOC129933312, LOC129933313 +736 more	Copy number gain	See cases	GPathogenic
Select item 146072	GRCh38/hg38 2p25.3-23.2(chr2:30341-28419664)x3	C2orf48, C2orf50 +893 more	Copy number gain	See cases	GPathogenic
Select item 59133	GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3	ABCG5, ABCG8 +1631 more	Copy number gain	See cases	GPathogenic
Select item 155615	GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3	ABCG5, ABCG8 +1400 more	Copy number gain	See cases	GPathogenic
Select item 148848	GRCh38/hg38 2p25.3-24.1(chr2:1664615-23664142)x3	ADAM17, ADI1 +546 more	Copy number gain	See cases	GPathogenic
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	LOC126806252, LOC126806253 +2457 more	Copy number gain	See cases	GBenign
Select item 150627	GRCh38/hg38 2p24.2-24.1(chr2:16723596-21600734)x1	APOB, APOB-ICR +131 more	Copy number loss	See cases	GPathogenic
Select item 154010	GRCh38/hg38 2p24.1(chr2:19667198-20009783)x3	LINC00954, LOC105373461 +8 more	Copy number gain	See cases	GLikely benign
Select item 2239567	NM_001008237.3(TTC32):c.409C>G (p.Leu137Val)	TTC32 (L137V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237829	NM_001008237.3(TTC32):c.400C>G (p.Gln134Glu)	TTC32 (Q134E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551957	NM_001008237.3(TTC32):c.373T>C (p.Phe125Leu)	TTC32 (F125L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205090	NM_001008237.3(TTC32):c.255A>G (p.Ile85Met)	TTC32 (I85M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332457	NM_001008237.3(TTC32):c.236A>G (p.Asp79Gly)	TTC32 (D79G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184303	NM_001008237.3(TTC32):c.190A>G (p.Arg64Gly)	TTC32 (R64G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598602	NM_001008237.3(TTC32):c.188A>G (p.Asn63Ser)	TTC32 (N63S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373601	NM_001008237.3(TTC32):c.124G>A (p.Ala42Thr)	TTC32 (A42T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403302	NM_001008237.3(TTC32):c.109C>T (p.Arg37Trp)	TTC32 (R37W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329877	NM_001008237.3(TTC32):c.97G>A (p.Ala33Thr)	TTC32 (A33T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276458	NM_001008237.3(TTC32):c.88C>G (p.Leu30Val)	TTC32 (L30V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401947	NM_001008237.3(TTC32):c.79G>T (p.Ala27Ser)	TTC32 (A27S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334794	NM_001008237.3(TTC32):c.57C>A (p.Phe19Leu)	TTC32 (F19L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148883	GRCh37/hg19 2p25.3-22.3(chr2:12771-35541353)x3	ABHD1, ACP1 +182 more	Copy number gain	See cases	GPathogenic
Select item 3062591	GRCh37/hg19 2p25.2-24.1(chr2:6375088-23538518)x3	APOB, ASAP2 +59 more	Copy number gain	not specified	GPathogenic
Select item 1808629	GRCh37/hg19 2p25.3-22.3(chr2:706460-35523639)x3	ABHD1, ADAM17 +177 more	Copy number gain	not provided	GPathogenic
Select item 1808597	GRCh37/hg19 2p24.1(chr2:19866960-20210081)x3	MATN3, TTC32 +1 more	Copy number gain	not provided	GUncertain significance
Select item 1708190	GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1	ACTG2, ACTR1B +529 more	Copy number loss	See cases	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 979979	GRCh37/hg19 2p24.1(chr2:20026422-20115214)x1	WDR35, TTC32	Copy number loss	not provided	GUncertain significance
Select item 687179	GRCh37/hg19 2p24.3-24.1(chr2:15631145-21729493)x1	APOB, CYRIA +25 more	Copy number loss	not provided	GPathogenic
Select item 562668	GRCh37/hg19 2p24.1-23.3(chr2:19905995-24762790)x1	APOB, ATAD2B +22 more	Copy number loss	not provided	GPathogenic
Select item 562618	GRCh37/hg19 2p24.1(chr2:19375553-20285159)x3	WDR35, MATN3 +3 more	Copy number gain	not provided	GUncertain significance
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 253884	GRCh37/hg19 2p24.1(chr2:19726367-20251569)x3	MATN3, WDR35 +2 more	Copy number gain	See cases	GUncertain significance

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Items: 37