SMDT1[gene] - ClinVar

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Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144164	GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3	IL17RA, LINC01640 +2088 more	Copy number gain	See cases	GPathogenic
Select item 145336	GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3	LOC130067403, LOC130067404 +2088 more	Copy number gain	See cases	GPathogenic
Select item 57942	GRCh38/hg38 22q12.3-13.33(chr22:37061769-50738932)x3	LOC130067651, LOC130067652 +1004 more	Copy number gain	See cases	GPathogenic
Select item 145111	GRCh38/hg38 22q13.1-13.33(chr22:40202014-50735806)x3	LOC130067596, LOC130067597 +687 more	Copy number gain	See cases	GPathogenic
Select item 147621	GRCh38/hg38 22q13.2(chr22:41277822-42414957)x3	ACO2, CCDC134 +109 more	Copy number gain	See cases	GPathogenic
Select item 147321	GRCh38/hg38 22q13.2(chr22:41645339-42565798)x1	LOC130067597, LOC130067598 +91 more	Copy number loss	See cases	GUncertain significance
Select item 147775	GRCh38/hg38 22q13.2-13.33(chr22:41871143-50739836)x1	A4GALT, ACR +580 more	Copy number loss	See cases	GPathogenic
Select item 2612134	NM_033318.5(SMDT1):c.17C>T (p.Ala6Val)	SMDT1 (A6V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2257789	NM_033318.5(SMDT1):c.38C>T (p.Pro13Leu)	SMDT1 (P13L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3166464	NM_033318.5(SMDT1):c.52G>T (p.Ala18Ser)	SMDT1 (A18S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2483141	NM_033318.5(SMDT1):c.52G>C (p.Ala18Pro)	SMDT1 (A18P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3166465	NM_033318.5(SMDT1):c.67C>T (p.Pro23Ser)	SMDT1 (P23S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3166466	NM_033318.5(SMDT1):c.70A>G (p.Ser24Gly)	SMDT1 (S24G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2379839	NM_033318.5(SMDT1):c.105G>T (p.Trp35Cys)	SMDT1 (W35C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2319698	NM_033318.5(SMDT1):c.112T>C (p.Ser38Pro)	SMDT1 (S38P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3320920	NM_033318.5(SMDT1):c.131C>G (p.Pro44Arg)	SMDT1 (P44R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3166461	NM_033318.5(SMDT1):c.145A>C (p.Ile49Leu)	SMDT1 (I49L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 154688	GRCh38/hg38 22q13.2-13.33(chr22:42080077-50739836)x3	LOC126863184, LOC126863185 +541 more	Copy number gain	See cases	GPathogenic
Select item 3166463	NM_033318.5(SMDT1):c.199C>A (p.Leu67Ile)	SMDT1 (L67I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3148861	GRCh37/hg19 22q13.2(chr22:41591000-42869987)x1	ACO2, CCDC134 +29 more	Copy number loss	not provided	GUncertain significance
Select item 3062450	GRCh37/hg19 22q13.1-13.31(chr22:39044105-45794212)x3	A4GALT, ACO2 +106 more	Copy number gain	not specified	GPathogenic
Select item 2425394	NC_000022.10:g.(?_42456283)_(43089957_?)del	A4GALT, ATP5MGL +11 more	Deletion	not provided	GPathogenic
Select item 2422150	NC_000022.10:g.(?_35776672)_(42486826_?)dup	ACO2, ADSL +132 more	Duplication	Adenylosuccinate lyase deficiency	GUncertain significance
Select item 1447656	NC_000022.10:g.(?_41277754)_(43089957_?)dup	ATP5MGL, CCDC134 +38 more	Duplication	Immunodeficiency, common variable, 4	GUncertain significance
Select item 1330161	GRCh37/hg19 22q13.2-13.33(chr22:42321321-51244066)x1	A4GALT, ACR +96 more	Copy number loss	Phelan-McDermid syndrome	GPathogenic
Select item 1077183	Single allele	A4GALT, ARFGAP3 +19 more	Deletion	Developmental delay with variable intellectual impairment and behavioral abnormalities	GPathogenic
Select item 997819	Single allele	BIK, BRD1 +94 more	Deletion	Intellectual disability	GPathogenic
Select item 997811	Single allele	WBP2NL, ARFGAP3 +21 more	Deletion	Intellectual disability	GPathogenic
Select item 983188	GRCh37/hg19 22q11.1-13.33(chr22:16197005-51224252)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic
Select item 816565	GRCh37/hg19 22q13.1-13.33(chr22:40502364-51197838)x3	A4GALT, ACO2 +126 more	Copy number gain	not provided	GPathogenic
Select item 816216	GRCh37/hg19 22q12.2-13.33(chr22:30654764-51197838)x3	CERK, CHADL +271 more	Copy number gain	not provided	GPathogenic
Select item 685636	GRCh37/hg19 22q11.1-13.33(chr22:16888899-51197838)x3	TUBA8, TUBGCP6 +435 more	Copy number gain	not provided	GPathogenic
Select item 625737	GRCh37/hg19 22q13.2-13.33(chr22:42416026-51181759)	A4GALT, ACR +92 more	Copy number loss	Phelan-McDermid syndrome	GPathogenic
Select item 565011	GRCh37/hg19 22q13.2(chr22:41849322-42756616)x3	NDUFA6, WBP2NL +21 more	Copy number gain	not provided	GLikely pathogenic
Select item 443784	GRCh37/hg19 22q13.2(chr22:41835094-42756616)x3	ACO2, CCDC134 +22 more	Copy number gain	See cases	GUncertain significance
Select item 441654	GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)	ANKRD54, AP1B1 +435 more	Copy number gain	See cases	GPathogenic
Select item 441653	GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)x3	NEFH, NF2 +435 more	Copy number gain	See cases	GPathogenic
Select item 441574	GRCh37/hg19 22q13.2-13.33(chr22:42441918-51197838)x1	A4GALT, ACR +91 more	Copy number loss	See cases	GPathogenic
Select item 395140	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237463)x3	ZNF280A, ZNF280B +438 more	Copy number gain	See cases	GPathogenic
Select item 394709	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51220902)x3	SMARCB1, SMC1B +438 more	Copy number gain	See cases	GPathogenic
Select item 253756	GRCh37/hg19 22q13.2(chr22:42207144-42776457)x1	SMDT1, NDUFA6 +13 more	Copy number loss	See cases	GUncertain significance
Select item 253617	GRCh37/hg19 22q12.3-13.33(chr22:35728929-51220961)x3	A4GALT, ACO2 +223 more	Copy number gain	See cases	GPathogenic
Select item 253559	GRCh37/hg19 22q13.1-13.33(chr22:40425714-51220961)x3	ADM2, A4GALT +128 more	Copy number gain	See cases	GPathogenic
Select item 253509	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic

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Items: 44