KCTD20[gene] - ClinVar

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Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ILRUN-AS1, IP6K3 +2582 more	Copy number gain	See cases	GPathogenic
Select item 3113647	NM_173562.5(KCTD20):c.40C>T (p.Arg14Trp)	KCTD20 (R14W)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2541056	NM_173562.5(KCTD20):c.52A>G (p.Ser18Gly)	KCTD20 (S18G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2624412	NM_173562.5(KCTD20):c.118G>T (p.Gly40Cys)	KCTD20 (G40C)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2466126	NM_173562.5(KCTD20):c.162C>A (p.Asp54Glu)	KCTD20 (D54E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2406732	NM_173562.5(KCTD20):c.212T>C (p.Ile71Thr)	KCTD20 (I71T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2321388	NM_173562.5(KCTD20):c.255T>G (p.Ser85Arg)	KCTD20 (S85R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2284653	NM_173562.5(KCTD20):c.259A>C (p.Asn87His)	KCTD20 (N87H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2509494	NM_173562.5(KCTD20):c.398A>C (p.Gln133Pro)	KCTD20 (Q133P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3113648	NM_173562.5(KCTD20):c.415C>A (p.Pro139Thr)	KCTD20 (P139T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2253845	NM_173562.5(KCTD20):c.469C>T (p.Arg157Trp)	KCTD20 (R12W +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3287842	NM_173562.5(KCTD20):c.470G>A (p.Arg157Gln)	KCTD20 (R157Q +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2400601	NM_173562.5(KCTD20):c.505G>A (p.Gly169Ser)	KCTD20 (G169S +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3113649	NM_173562.5(KCTD20):c.527G>A (p.Arg176His)	KCTD20 (R176H +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2373023	NM_173562.5(KCTD20):c.563A>G (p.Asn188Ser)	KCTD20 (N188S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2535075	NM_173562.5(KCTD20):c.776A>C (p.His259Pro)	KCTD20 (H93P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2459808	NM_173562.5(KCTD20):c.793G>C (p.Asp265His)	KCTD20 (D99H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3287845	NM_173562.5(KCTD20):c.829C>G (p.Pro277Ala)	KCTD20 (P277A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2482096	NM_173562.5(KCTD20):c.872A>G (p.Lys291Arg)	KCTD20 (K125R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2610650	NM_173562.5(KCTD20):c.986A>G (p.Glu329Gly)	KCTD20 (E163G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3113644	NM_173562.5(KCTD20):c.1036G>T (p.Val346Leu)	KCTD20 (V201L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3287844	NM_173562.5(KCTD20):c.1065G>C (p.Trp355Cys)	KCTD20 (W189C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3113645	NM_173562.5(KCTD20):c.1180C>T (p.His394Tyr)	KCTD20 (H249Y +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3113646	NM_173562.5(KCTD20):c.1210C>G (p.Arg404Gly)	KCTD20 (R259G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2551997	NM_173562.5(KCTD20):c.1228T>C (p.Ser410Pro)	KCTD20 (S244P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3246250	NC_000006.11:g.(?_35773448)_(36953949_?)del	BRPF3, BNIP5 +18 more	Deletion	not provided	GPathogenic
Select item 2685202	GRCh37/hg19 6p21.31-21.1(chr6:35562152-42003452)x1	BNIP5, APOBEC2 +67 more	Copy number loss	not provided	GPathogenic
Select item 2445505	NC_000006.11:g.(?_32148920)_(36953949_?)dup	ARMC12, BRPF3 +94 more	Duplication	not provided	GUncertain significance
Select item 2427350	NC_000006.11:g.(?_30695893)_(36953949_?)dup	ABHD16A, AGER +172 more	Duplication	Proteasome-associated autoinflammatory syndrome 1	GUncertain significance
Select item 997072	GRCh37/hg19 6p21.31-21.2(chr6:34401304-38435497)	ANKS1A, ARMC12 +49 more	Copy number loss	Severe intrauterine growth retardation	GPathogenic
Select item 625706	GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	ERVH-3, ETV7 +427 more	Copy number gain	not provided	GPathogenic
Select item 563171	GRCh37/hg19 6p21.31-21.2(chr6:34683518-36905281)x3	UHRF1BP1, SRSF3 +34 more	Copy number gain	not provided	GLikely pathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic

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Items: 34