ClinVar for Gene (Select 64288) - ClinVar

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Links from Gene

Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3260086	NM_030899.5(ZSCAN31):c.232A>G (p.Ile78Val)	ZSCAN31 (I78V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3260085	NM_030899.5(ZSCAN31):c.61T>A (p.Trp21Arg)	ZSCAN31 (W21R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3260084	NM_030899.5(ZSCAN31):c.1037C>G (p.Thr346Ser)	ZSCAN31 (T346S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260083	NM_030899.5(ZSCAN31):c.502T>A (p.Ser168Thr)	ZSCAN31 (S168T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260082	NM_030899.5(ZSCAN31):c.609T>G (p.Asp203Glu)	ZSCAN31 (D203E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260081	NM_030899.5(ZSCAN31):c.860G>A (p.Arg287Gln)	ZSCAN31 (R128Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199445	NM_030899.5(ZSCAN31):c.890G>A (p.Cys297Tyr)	ZSCAN31 (C297Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199444	NM_030899.5(ZSCAN31):c.859C>T (p.Arg287Trp)	ZSCAN31 (R287W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199443	NM_030899.5(ZSCAN31):c.601T>A (p.Leu201Met)	ZSCAN31 (L42M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199442	NM_030899.5(ZSCAN31):c.1172G>A (p.Arg391Gln)	ZSCAN31 (R232Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685200	GRCh37/hg19 6p22.1(chr6:28296650-28369127)x1	ZKSCAN3, ZSCAN12 +1 more	Copy number loss	not provided	GUncertain significance
Select item 2493158	NM_030899.5(ZSCAN31):c.76C>T (p.His26Tyr)	ZSCAN31 (H26Y)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2475370	NM_030899.5(ZSCAN31):c.1049G>A (p.Arg350His)	ZSCAN31 (R350H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472433	NM_030899.5(ZSCAN31):c.449A>G (p.Gln150Arg)	ZSCAN31 (Q150R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2467834	NM_030899.5(ZSCAN31):c.518A>G (p.Gln173Arg)	ZSCAN31 (Q14R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406439	NM_030899.5(ZSCAN31):c.833G>A (p.Arg278Gln)	ZSCAN31 (R119Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2378649	NM_030899.5(ZSCAN31):c.311C>T (p.Pro104Leu)	ZSCAN31 (P104L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2366950	NM_030899.5(ZSCAN31):c.412G>A (p.Val138Met)	ZSCAN31 (V138M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2361471	NM_030899.5(ZSCAN31):c.760C>T (p.Leu254Phe)	ZSCAN31 (L254F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352586	NM_030899.5(ZSCAN31):c.176G>A (p.Arg59Gln)	ZSCAN31 (R59Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2311584	NM_030899.5(ZSCAN31):c.713G>A (p.Arg238His)	ZSCAN31 (R79H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240861	NM_030899.5(ZSCAN31):c.157C>A (p.Pro53Thr)	ZSCAN31 (P53T)	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 787664	NM_030899.5(ZSCAN31):c.954_955del (p.Glu320fs)	ZSCAN31 (E320fs +1 more)	Deletion (frameshift variant)	not provided	GBenign
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ILRUN-AS1, IP6K3 +2582 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

ClinVar

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Links from Gene

Items: 29