ClinVar for Gene (Select 7741) - ClinVar - NCBI

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Links from Gene

Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3199412	NM_001023560.4(ZSCAN26):c.1329A>G (p.Arg443=)	ZSCAN26	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3199411	NM_001023560.4(ZSCAN26):c.1292C>G (p.Ala431Gly)	ZSCAN26 (A222G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199410	NM_001023560.4(ZSCAN26):c.1143C>T (p.Leu381=)	ZSCAN26	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2494831	NM_001023560.4(ZSCAN26):c.1124C>A (p.Thr375Asn)	ZSCAN26 (T240N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359587	NM_001023560.4(ZSCAN26):c.1393G>A (p.Gly465Ser)	ZSCAN26 (G256S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260395	NM_001023560.4(ZSCAN26):c.953A>T (p.Lys318Ile)	ZSCAN26 (K109I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231709	NM_001023560.4(ZSCAN26):c.212G>A (p.Arg71Gln)	ZSCAN26 (R71Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 974733	NC_000006.11:g.28005012_31683185del	ABCF1, ABHD16A +106 more	Deletion	Megacolon	GLikely pathogenic
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	HCG26, HCG27 +2581 more	Copy number gain	See cases	GPathogenic
Select item 150044	GRCh38/hg38 6p25.2-21.33(chr6:3224310-30657190)x3	ABCF1, ABT1 +1340 more	Copy number gain	See cases	GPathogenic
Select item 144210	GRCh38/hg38 6p22.2-22.1(chr6:26280579-28727313)x3	ABT1, BTN1A1 +344 more	Copy number gain	See cases	GUncertain significance