ClinVar for Gene (Select 375035) - ClinVar

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Links from Gene

Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3160944	NM_199344.3(SFT2D2):c.374C>T (p.Ala125Val)	SFT2D2 (A125V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160943	NM_199344.3(SFT2D2):c.368G>A (p.Gly123Glu)	SFT2D2 (G123E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160942	NM_199344.3(SFT2D2):c.18G>C (p.Lys6Asn)	SFT2D2 (K6N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063521	GRCh37/hg19 1q24.2-31.1(chr1:167994071-187711459)x1	ABL2, ACBD6 +123 more	Copy number loss	not specified	GPathogenic
Select item 2685754	GRCh37/hg19 1q23.3-25.1(chr1:164571371-175708060)x1	ADCY10, ALDH9A1 +81 more	Copy number loss	not provided	GPathogenic
Select item 2511424	NM_199344.3(SFT2D2):c.35A>C (p.Asp12Ala)	SFT2D2 (D12A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489166	NM_199344.3(SFT2D2):c.430A>G (p.Ile144Val)	SFT2D2 (I144V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2427631	NC_000001.10:g.(?_167400918)_(168282240_?)dup	ADCY10, CD247 +9 more	Duplication	Immunodeficiency 25	GUncertain significance
Select item 2380258	NM_199344.3(SFT2D2):c.472T>G (p.Cys158Gly)	SFT2D2 (C158G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378467	NM_199344.3(SFT2D2):c.197C>T (p.Ala66Val)	SFT2D2 (A66V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328721	NM_199344.3(SFT2D2):c.104A>T (p.Lys35Ile)	SFT2D2 (K35I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322958	NM_199344.3(SFT2D2):c.310A>C (p.Met104Leu)	SFT2D2 (M104L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2280397	NM_199344.3(SFT2D2):c.347C>G (p.Ala116Gly)	SFT2D2 (A116G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274417	NM_199344.3(SFT2D2):c.427T>G (p.Phe143Val)	SFT2D2 (F143V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242731	NM_199344.3(SFT2D2):c.427T>A (p.Phe143Ile)	SFT2D2 (F143I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1527359	GRCh37/hg19 1q24.2-24.3(chr1:167391422-171843613)	ADCY10, ATP1B1 +39 more	Copy number loss	not specified	GPathogenic
Select item 1527348	GRCh37/hg19 1q23.3-24.3(chr1:162330810-171532331)	ADCY10, ALDH9A1 +62 more	Copy number loss	not specified	GPathogenic
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	ATP8B2, AVPR1B +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 979302	GRCh37/hg19 1q23.3-24.2(chr1:164608682-169216098)x1	STYXL2, GPR161 +30 more	Copy number loss	not provided	GLikely pathogenic
Select item 814137	GRCh37/hg19 1q24.2-25.1(chr1:167430471-174635618)x1	METTL13, METTL18 +60 more	Copy number loss	not provided	GPathogenic
Select item 688465	GRCh37/hg19 1q23.3-24.2(chr1:163093021-168991239)x1	ADCY10, ALDH9A1 +30 more	Copy number loss	not provided	GPathogenic
Select item 625771	GRCh37/hg19 1q23.2-25.1(chr1:160369890-175796325)	ADCY10, ALDH9A1 +137 more	Copy number loss	not provided	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	BCAS2, CNTN2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	FAM76A, FAM78B +2014 more	Copy number gain	See cases	GPathogenic
Select item 395654	GRCh37/hg19 1q23.3-25.3(chr1:161676893-184071723)x1	SUCO, TADA1 +147 more	Copy number loss	See cases	GPathogenic
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC129931453, LOC129931454 +1585 more	Copy number gain	See cases	GPathogenic
Select item 155225	GRCh38/hg38 1q23.3-25.1(chr1:163382523-175877022)x1	LOC129388624, LOC129388625 +407 more	Copy number loss	See cases	GPathogenic
Select item 60045	GRCh38/hg38 1q24.1-25.1(chr1:166762832-175327423)x1	ADCY10, ANKRD45 +332 more	Copy number loss	See cases	GPathogenic
Select item 60042	GRCh38/hg38 1q23.3-25.1(chr1:161740907-173965154)x1	ADCY10, ALDH9A1 +406 more	Copy number loss	See cases	GPathogenic
Select item 58111	GRCh38/hg38 1q23.3-25.2(chr1:164922655-180061589)x3	FAM163A, FAM20B +482 more	Copy number gain	See cases	GPathogenic
Select item 58109	GRCh38/hg38 1q23.1-25.1(chr1:157747246-176021247)x3	ADAMTS4, ADCY10 +775 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 31