28006[HGNC] - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	AARSD1, AATF +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC126862582, LOC126862583 +1753 more	Copy number gain	See cases	GPathogenic
Select item 151500	GRCh38/hg38 17q22-23.1(chr17:57418806-59735464)x1	C17orf47, CCDC182 +168 more	Copy number loss	See cases	GPathogenic
Select item 599190	NC_000017.10:g.57075470_57235248del159779	LOC130061315, LOC130061316 +9 more	Deletion	Mulibrey nanism syndrome	GLikely pathogenic
Select item 3162592	NM_182620.4(SKA2):c.256A>G (p.Met86Val)	SKA2 (M86V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3162591	NM_182620.4(SKA2):c.253A>T (p.Thr85Ser)	SKA2 (T85S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2279075	NM_182620.4(SKA2):c.244G>A (p.Val82Met)	SKA2 (V82M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2368165	NM_182620.4(SKA2):c.229C>T (p.Arg77Cys)	SKA2 (R77C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3318687	NM_182620.4(SKA2):c.69A>G (p.Gln23=)	SKA2 (N55S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 150741	GRCh38/hg38 17q22-23.1(chr17:59151705-59547602)x3	GDPD1, LINC01476 +20 more	Copy number gain	See cases	GLikely benign
Select item 147832	GRCh38/hg38 17q22-23.1(chr17:59151820-59547491)x3	GDPD1, LINC01476 +20 more	Copy number gain	See cases	GBenign
Select item 2426129	NC_000017.10:g.(?_56798087)_(57771213_?)dup	CLTC, DHX40 +8 more	Duplication	not provided	GUncertain significance
Select item 1412084	NC_000017.10:g.(?_54671585)_(59938900_?)dup	AKAP1, APPBP2 +54 more	Duplication	Meckel-Gruber syndrome +1 more	GUncertain significance
Select item 1340785	GRCh37/hg19 17q22-23.1(chr17:57177520-57616383)x3	GDPD1, PRR11 +4 more	Copy number gain	not provided	GUncertain significance
Select item 929382	GRCh37/hg19 17q22(chr17:56780562-57251609)x1	PPM1E, PRR11 +3 more	Copy number loss	See cases	GPathogenic
Select item 687159	GRCh37/hg19 17q22(chr17:57177648-57576615)x3	GDPD1, PRR11 +4 more	Copy number gain	not provided	GUncertain significance
Select item 685605	GRCh37/hg19 17q22(chr17:57059828-57375023)x3	GDPD1, PPM1E +4 more	Copy number gain	not provided	GUncertain significance
Select item 444851	GRCh37/hg19 17q22(chr17:57045488-57404278)x3	GDPD1, SMG8 +4 more	Copy number gain	not provided	GUncertain significance
Select item 443558	GRCh37/hg19 17q22-23.2(chr17:56623275-60285107)x1	APPBP2, BCAS3 +29 more	Copy number loss	See cases	GPathogenic
Select item 442518	GRCh37/hg19 17q22-23.1(chr17:57159678-57665342)x3	DHX40, GDPD1 +5 more	Copy number gain	See cases	GUncertain significance
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +1143 more	Copy number gain	See cases	GPathogenic
Select item 441659	GRCh37/hg19 17q22-23.1(chr17:57070141-57752711)x3	CLTC, DHX40 +6 more	Copy number gain	See cases	GUncertain significance
Select item 395646	GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3	AANAT, AATK +458 more	Copy number gain	See cases	GPathogenic
Select item 394267	GRCh37/hg19 17q22(chr17:52189051-57477162)x3	AKAP1, ANKFN1 +42 more	Copy number gain	See cases	GPathogenic
Select item 394158	GRCh37/hg19 17q21.33-23.2(chr17:49076980-58740945)x3	AKAP1, ANKFN1 +65 more	Copy number gain	See cases	GPathogenic
Select item 253549	GRCh37/hg19 17q22-23.3(chr17:56321134-62080001)x3	TANC2, DDX42 +66 more	Copy number gain	See cases	GPathogenic

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Items: 27