SPINK2[gene] - ClinVar

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Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2579174	GRCh38/hg38 4p16.3-q12(chr4:85624-57073230)x3	LOC129992561, LOC129992562 +1409 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 57074	GRCh38/hg38 4p13-q13.1(chr4:44356201-62245882)x3	AASDH, ADGRL3 +244 more	Copy number gain	See cases	GPathogenic
Select item 58029	GRCh38/hg38 4q12-22.3(chr4:51831622-97505618)x3	LOC129389216, LOC129389217 +757 more	Copy number gain	See cases	GPathogenic
Select item 58028	GRCh38/hg38 4q12-13.2(chr4:51831622-66991489)x3	AASDH, ADGRL3 +177 more	Copy number gain	See cases	GPathogenic
Select item 1098574	GRCh38/hg38 4q12-21.1(chr4:51891814-76009719)x1	ENAM, LOC123477761 +360 more	Copy number loss	Piebaldism	GPathogenic
Select item 58030	GRCh38/hg38 4q12-13.1(chr4:51899860-59984479)x3	LOC129992618, LOC129992619 +143 more	Copy number gain	See cases	GPathogenic
Select item 59423	GRCh38/hg38 4q12-13.1(chr4:52639018-59984479)x1	AASDH, ARL9 +136 more	Copy number loss	See cases	GPathogenic
Select item 59424	GRCh38/hg38 4q12-13.1(chr4:54198601-62270115)x1	AASDH, ADGRL3 +100 more	Copy number loss	See cases	GPathogenic
Select item 148576	GRCh38/hg38 4q12(chr4:56248102-57218522)x4	AASDH, ARL9 +39 more	Copy number gain	See cases	GUncertain significance
Select item 3055956	NM_001271718.2(SPINK2):c.*153dup	SPINK2	Duplication (3 prime UTR variant +2 more)	SPINK2-related disorder	GBenign
Select item 1028720	NM_001271718.2(SPINK2):c.360-3C>T	SPINK2	Single nucleotide variant (intron variant)	Spermatogenic failure 29	GUncertain significance
Select item 2258097	NM_001271718.2(SPINK2):c.341C>T (p.Thr114Ile)	SPINK2 (T114I +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3169139	NM_001271718.2(SPINK2):c.248C>T (p.Thr83Met)	SPINK2 (R55C +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2569027	NM_001271718.2(SPINK2):c.247A>G (p.Thr83Ala)	SPINK2 (T83A +2 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3053347	NM_001271718.2(SPINK2):c.216C>T (p.Ile72=)	SPINK2	Single nucleotide variant (synonymous variant +2 more)	SPINK2-related disorder	GBenign
Select item 2528981	NM_001271718.2(SPINK2):c.215T>G (p.Ile72Ser)	SPINK2 (I22S +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 559843	NM_001271718.2(SPINK2):c.206-3C>G	SPINK2	Single nucleotide variant (intron variant)	Spermatogenic failure 29	GPathogenic
Select item 3042631	NM_001271718.2(SPINK2):c.205+7del	SPINK2	Deletion (non-coding transcript variant +1 more)	SPINK2-related disorder	GLikely benign
Select item 3058909	NM_001271718.2(SPINK2):c.118A>G (p.Thr40Ala)	LOC129992634, SPINK2 (T40A)	Single nucleotide variant (missense variant +2 more)	SPINK2-related disorder	GBenign
Select item 3059829	NM_001271718.2(SPINK2):c.110G>A (p.Gly37Glu)	LOC129992634, SPINK2 (G37E)	Single nucleotide variant (missense variant +2 more)	SPINK2-related disorder	GBenign
Select item 2322476	NM_001271718.2(SPINK2):c.52G>A (p.Ala18Thr)	LOC129992634, SPINK2 (A18T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3322244	NM_001271718.2(SPINK2):c.29T>G (p.Leu10Arg)	LOC129992634, SPINK2 (L10R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3034488	NM_001271718.2(SPINK2):c.-7G>C	LOC129992634, SPINK2	Single nucleotide variant (5 prime UTR variant +1 more)	SPINK2-related disorder	GLikely benign
Select item 3246588	NC_000004.11:g.(?_55124936)_(57786056_?)del	AASDH, ARL9 +18 more	Deletion	Gastrointestinal stromal tumor	GPathogenic
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	HPGDS, SCRG1 +537 more	Copy number gain	not provided	GPathogenic
Select item 2685109	GRCh37/hg19 4q12-13.3(chr4:57584845-72430996)x1	ADGRL3, AMBN +52 more	Copy number loss	not provided	GPathogenic
Select item 2685108	GRCh37/hg19 4q11-13.1(chr4:52685685-61903883)x1	AASDH, ARL9 +36 more	Copy number loss	not provided	GPathogenic
Select item 1808462	GRCh37/hg19 4q11-12(chr4:52685980-59272025)x3	AASDH, ARL9 +36 more	Copy number gain	not provided	GUncertain significance
Select item 1433363	NC_000004.11:g.(?_55124936)_(57798318_?)dup	AASDH, ARL9 +18 more	Duplication	TMEM165-congenital disorder of glycosylation	GUncertain significance
Select item 1340920	GRCh37/hg19 4q11-12(chr4:52685685-58104722)x1	AASDH, ARL9 +36 more	Copy number loss	not provided	GPathogenic
Select item 1340288	GRCh37/hg19 4q12-31.21(chr4:52866944-143582507)x3	AASDH, ABCG2 +359 more	Copy number gain	not provided	GPathogenic
Select item 979470	GRCh37/hg19 4q12(chr4:57588857-57872994)x3	POLR2B, SPINK2 +2 more	Copy number gain	not provided	GUncertain significance
Select item 814558	GRCh37/hg19 4q12(chr4:57067953-57957651)x3	SRP72, SPINK2 +11 more	Copy number gain	not provided	GUncertain significance
Select item 441812	GRCh37/hg19 4p16.3-q13.1(chr4:68345-66440622)x3	HTRA3, HTT +267 more	Copy number gain	See cases	GPathogenic
Select item 441728	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)	AADAT, AASDH +745 more	Copy number gain	See cases	GPathogenic
Select item 441727	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	MRPL1, MSANTD1 +745 more	Copy number gain	See cases	GPathogenic
Select item 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	H2AZ1, HADH +744 more	Copy number gain	See cases	GPathogenic

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Items: 37