ClinVar for Gene (Select 55776) - ClinVar

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Links from Gene

Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3157977	NM_018322.3(SAYSD1):c.62C>T (p.Pro21Leu)	LOC129996373, SAYSD1 (P21L)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3157975	NM_018322.3(SAYSD1):c.298A>G (p.Asn100Asp)	SAYSD1 (N100D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157974	NM_018322.3(SAYSD1):c.206A>T (p.Gln69Leu)	LOC129996373, SAYSD1 (Q69L)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3157973	NM_018322.3(SAYSD1):c.193C>G (p.Pro65Ala)	LOC129996373, SAYSD1 (P65A)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
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 2684445	GRCh37/hg19 6p21.2(chr6:39054113-40272338)x3	DAAM2, GLP1R +6 more	Copy number gain	not provided	GUncertain significance
Select item 2600455	NM_018322.3(SAYSD1):c.11G>A (p.Arg4Gln)	SAYSD1 (R4Q)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2548059	NM_018322.3(SAYSD1):c.149G>A (p.Arg50Gln)	LOC129996373, SAYSD1 (R50Q)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2545227	NM_018322.3(SAYSD1):c.548G>A (p.Arg183Lys)	SAYSD1 (R116K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543503	NM_018322.3(SAYSD1):c.389T>C (p.Leu130Ser)	SAYSD1 (L63S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396391	NM_018322.3(SAYSD1):c.409G>A (p.Gly137Arg)	SAYSD1 (G137R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396105	NM_018322.3(SAYSD1):c.208G>A (p.Glu70Lys)	SAYSD1 (E3K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391035	NM_018322.3(SAYSD1):c.44C>A (p.Ala15Glu)	LOC129996373, SAYSD1 (A15E)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2355586	NM_018322.3(SAYSD1):c.125A>C (p.Lys42Thr)	LOC129996373, SAYSD1 (K42T)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2343889	NM_018322.3(SAYSD1):c.61C>A (p.Pro21Thr)	LOC129996373, SAYSD1 (P21T)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2334781	NM_018322.3(SAYSD1):c.528G>T (p.Gln176His)	SAYSD1 (Q109H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 979552	GRCh37/hg19 6p21.2(chr6:39069267-39301460)x3	KCNK5, SAYSD1 +2 more	Copy number gain	not provided	GUncertain significance
Select item 625706	GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	LRRC1, LRRC73 +427 more	Copy number gain	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	TAAR8, TAAR9 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	VPS52, VTA1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ANKRD66, C6orf201 +2580 more	Copy number gain	See cases	GPathogenic
Select item 58427	GRCh38/hg38 6p21.2-21.1(chr6:37777369-45653843)x1	AARS2, ABCC10 +435 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 22