ZSCAN9[gene] - ClinVar

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Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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
Select item 2619428	NM_006299.5(ZSCAN9):c.52G>T (p.Ala18Ser)	ZSCAN9 (A18S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260109	NM_006299.5(ZSCAN9):c.155G>A (p.Arg52Gln)	ZSCAN9 (R52Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260111	NM_006299.5(ZSCAN9):c.165T>A (p.Phe55Leu)	ZSCAN9 (F55L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199493	NM_006299.5(ZSCAN9):c.202G>A (p.Glu68Lys)	ZSCAN9 (E68K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494696	NM_006299.5(ZSCAN9):c.323T>C (p.Leu108Pro)	ZSCAN9 (L108P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199494	NM_006299.5(ZSCAN9):c.342A>C (p.Glu114Asp)	ZSCAN9 (E114D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535662	NM_006299.5(ZSCAN9):c.365A>G (p.Glu122Gly)	ZSCAN9 (E122G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367288	NM_006299.5(ZSCAN9):c.455G>A (p.Cys152Tyr)	ZSCAN9 (C152Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602560	NM_006299.5(ZSCAN9):c.491T>G (p.Leu164Arg)	ZSCAN9 (L164R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270189	NM_006299.5(ZSCAN9):c.503C>T (p.Ser168Phe)	ZSCAN9 (S168F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199496	NM_006299.5(ZSCAN9):c.569-2157C>G	ZSCAN9 (T213R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3199497	NM_006299.5(ZSCAN9):c.569-2121T>C	ZSCAN9 (L225P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2362576	NM_006299.5(ZSCAN9):c.638A>G (p.His213Arg)	ZSCAN9 (H264R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540636	NM_006299.5(ZSCAN9):c.661A>G (p.Thr221Ala)	ZSCAN9 (T221A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615241	NM_006299.5(ZSCAN9):c.700G>A (p.Val234Ile)	ZSCAN9 (V234I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260110	NM_006299.5(ZSCAN9):c.712A>C (p.Lys238Gln)	ZSCAN9 (K238Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199498	NM_006299.5(ZSCAN9):c.803G>T (p.Gly268Val)	ZSCAN9 (G268V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336081	NM_006299.5(ZSCAN9):c.809T>C (p.Ile270Thr)	ZSCAN9 (I321T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199499	NM_006299.5(ZSCAN9):c.823A>G (p.Ile275Val)	ZSCAN9 (I326V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260108	NM_006299.5(ZSCAN9):c.869C>G (p.Ala290Gly)	ZSCAN9 (A341G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218286	NM_006299.5(ZSCAN9):c.902G>A (p.Arg301Gln)	ZSCAN9 (R301Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2347676	NM_006299.5(ZSCAN9):c.943T>C (p.Cys315Arg)	ZSCAN9 (C315R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303320	NM_006299.5(ZSCAN9):c.1048C>T (p.Arg350Cys)	ZSCAN9 (R350C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396718	NM_006299.5(ZSCAN9):c.1049G>A (p.Arg350His)	ZSCAN9 (R350H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541610	NM_006299.5(ZSCAN9):c.1091G>A (p.Arg364Gln)	ZSCAN9 (R364Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405977	NM_006299.5(ZSCAN9):c.1115G>A (p.Gly372Glu)	ZSCAN9 (G372E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615486	NM_006299.5(ZSCAN9):c.1124T>G (p.Phe375Cys)	ZSCAN9 (F375C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259860	NM_006299.5(ZSCAN9):c.1147C>T (p.Arg383Cys)	ZSCAN9 (R434C +1 more)	Single nucleotide variant (missense variant)	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)	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

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Items: 34