ClinVar for MedGen (Select 78578) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3022674	NM_006846.4(SPINK5):c.2539-8G>C	SPINK5	Single nucleotide variant (intron variant)	Ichthyosis linearis circumflexa	GLikely benign
Select item 3011430	NM_006846.4(SPINK5):c.486T>C (p.Ser162=)	SPINK5	Single nucleotide variant (synonymous variant)	Ichthyosis linearis circumflexa	GLikely benign
Select item 3008653	NM_006846.4(SPINK5):c.55+12G>A	SPINK5	Single nucleotide variant (intron variant)	Ichthyosis linearis circumflexa	GLikely benign
Select item 3008094	NM_006846.4(SPINK5):c.1608-15C>A	SPINK5	Single nucleotide variant (intron variant)	Ichthyosis linearis circumflexa	GLikely benign
Select item 2997404	NM_006846.4(SPINK5):c.1093-20T>C	SPINK5	Single nucleotide variant (intron variant)	Ichthyosis linearis circumflexa	GLikely benign
Select item 2992600	NM_006846.4(SPINK5):c.1437A>T (p.Gln479His)	SPINK5 (Q479H)	Single nucleotide variant (missense variant)	Ichthyosis linearis circumflexa	GUncertain significance
Select item 2991029	NM_006846.4(SPINK5):c.2742T>C (p.Asp914=)	SPINK5	Single nucleotide variant (synonymous variant)	Ichthyosis linearis circumflexa	GLikely benign
Select item 2990619	NM_006846.4(SPINK5):c.2739+1G>T	SPINK5 (V914F)	Single nucleotide variant (missense variant +1 more)	Ichthyosis linearis circumflexa	GLikely pathogenic
Select item 2987972	NM_006846.4(SPINK5):c.410+12C>A	SPINK5	Single nucleotide variant (intron variant)	Ichthyosis linearis circumflexa	GLikely benign
Select item 2987920	NM_006846.4(SPINK5):c.807T>C (p.Phe269=)	SPINK5	Single nucleotide variant (synonymous variant)	Ichthyosis linearis circumflexa	GLikely benign
Select item 2987478	NM_006846.4(SPINK5):c.2196T>C (p.Asp732=)	SPINK5	Single nucleotide variant (synonymous variant)	Ichthyosis linearis circumflexa	GLikely benign
Select item 2978240	NM_006846.4(SPINK5):c.1145C>T (p.Thr382Ile)	SPINK5 (T382I)	Single nucleotide variant (missense variant)	Ichthyosis linearis circumflexa	GUncertain significance
Select item 2977490	NM_006846.4(SPINK5):c.2767A>G (p.Ile923Val)	SPINK5 (I923V +1 more)	Single nucleotide variant (missense variant)	Ichthyosis linearis circumflexa	GUncertain significance
Select item 2977437	NM_006846.4(SPINK5):c.1220+16G>T	SPINK5	Single nucleotide variant (intron variant)	Ichthyosis linearis circumflexa	GLikely benign
Select item 2975078	NM_006846.4(SPINK5):c.2705A>G (p.Glu902Gly)	SPINK5 (E902G)	Single nucleotide variant (missense variant)	Ichthyosis linearis circumflexa	GUncertain significance
Select item 2973373	NM_006846.4(SPINK5):c.1302+10dup	SPINK5	Duplication (intron variant)	Ichthyosis linearis circumflexa	GLikely benign
Select item 2972413	NM_006846.4(SPINK5):c.1888-7C>T	SPINK5	Single nucleotide variant (intron variant)	Ichthyosis linearis circumflexa	GLikely benign
Select item 2971804	NM_006846.4(SPINK5):c.261C>T (p.Pro87=)	SPINK5	Single nucleotide variant (synonymous variant)	Ichthyosis linearis circumflexa	GLikely benign
Select item 2969247	NM_006846.4(SPINK5):c.2740-17C>G	SPINK5	Single nucleotide variant (intron variant)	Ichthyosis linearis circumflexa	GLikely benign
Select item 2967258	NM_006846.4(SPINK5):c.690A>G (p.Lys230=)	SPINK5	Single nucleotide variant (synonymous variant)	Ichthyosis linearis circumflexa	GLikely benign
Select item 2965380	NM_006846.4(SPINK5):c.602+1G>T	SPINK5	Single nucleotide variant (splice donor variant)	Ichthyosis linearis circumflexa	GLikely pathogenic
Select item 2962977	NM_006846.4(SPINK5):c.1956T>C (p.Pro652=)	SPINK5	Single nucleotide variant (synonymous variant)	Ichthyosis linearis circumflexa	GLikely benign
Select item 2958948	NM_006846.4(SPINK5):c.1983T>C (p.His661=)	SPINK5	Single nucleotide variant (synonymous variant)	Ichthyosis linearis circumflexa	GLikely benign
Select item 2912320	NM_006846.4(SPINK5):c.1093-13_1093-11del	SPINK5	Microsatellite (intron variant)	Ichthyosis linearis circumflexa	GLikely benign
Select item 2906593	NM_006846.4(SPINK5):c.3095+2T>C	SPINK5	Single nucleotide variant (splice donor variant)	Ichthyosis linearis circumflexa	GLikely pathogenic
Select item 2905264	NM_006846.4(SPINK5):c.21A>T (p.Ser7=)	SPINK5	Single nucleotide variant (synonymous variant)	Ichthyosis linearis circumflexa	GLikely benign
Select item 2904656	NM_006846.4(SPINK5):c.411-9del	SPINK5	Deletion (intron variant)	Ichthyosis linearis circumflexa	GBenign
Select item 2903680	NM_006846.4(SPINK5):c.1473T>G (p.Ala491=)	SPINK5	Single nucleotide variant (synonymous variant)	Ichthyosis linearis circumflexa	GLikely benign
Select item 2901494	NM_006846.4(SPINK5):c.2538+18C>A	SPINK5	Single nucleotide variant (intron variant)	Ichthyosis linearis circumflexa	GLikely benign
Select item 2894112	NM_006846.4(SPINK5):c.1479+7T>A	SPINK5	Single nucleotide variant (intron variant)	Ichthyosis linearis circumflexa	GLikely benign
Select item 2891637	NM_006846.4(SPINK5):c.2454A>C (p.Ala818=)	SPINK5	Single nucleotide variant (synonymous variant)	Ichthyosis linearis circumflexa	GLikely benign
Select item 2887104	NM_006846.4(SPINK5):c.411-7A>G	SPINK5	Single nucleotide variant (intron variant)	Ichthyosis linearis circumflexa	GLikely benign
Select item 2883657	NM_006846.4(SPINK5):c.209+12TTTC[3]	SPINK5	Microsatellite (intron variant)	Ichthyosis linearis circumflexa	GLikely benign
Select item 2882667	NM_006846.4(SPINK5):c.2870del (p.Leu957fs)	SPINK5 (L957fs +1 more)	Deletion (frameshift variant)	Ichthyosis linearis circumflexa	GPathogenic
Select item 2882574	NM_006846.4(SPINK5):c.473A>C (p.Gln158Pro)	SPINK5 (Q158P)	Single nucleotide variant (missense variant)	Ichthyosis linearis circumflexa	GUncertain significance
Select item 2878193	NM_006846.4(SPINK5):c.2015+1G>T	SPINK5	Single nucleotide variant (splice donor variant)	Ichthyosis linearis circumflexa	GLikely pathogenic
Select item 2874836	NM_006846.4(SPINK5):c.2965-11T>C	SPINK5	Single nucleotide variant (intron variant)	Ichthyosis linearis circumflexa	GLikely benign
Select item 2874481	NM_006846.4(SPINK5):c.2667-20T>C	SPINK5	Single nucleotide variant (intron variant)	Ichthyosis linearis circumflexa	GLikely benign
Select item 2872912	NM_006846.4(SPINK5):c.2313+16G>T	SPINK5	Single nucleotide variant (intron variant)	Ichthyosis linearis circumflexa	GLikely benign
Select item 2872460	NM_006846.4(SPINK5):c.794+10G>A	SPINK5	Single nucleotide variant (intron variant)	Ichthyosis linearis circumflexa	GLikely benign
Select item 2869039	NM_006846.4(SPINK5):c.602+9C>T	SPINK5	Single nucleotide variant (intron variant)	Ichthyosis linearis circumflexa	GLikely benign
Select item 2860737	NM_006846.4(SPINK5):c.3095+17C>T	SPINK5	Single nucleotide variant (intron variant)	Ichthyosis linearis circumflexa	GLikely benign
Select item 2852673	NM_006846.4(SPINK5):c.2490C>T (p.Ser830=)	SPINK5	Single nucleotide variant (synonymous variant)	Ichthyosis linearis circumflexa	GLikely benign
Select item 2851467	NM_006846.4(SPINK5):c.82-5C>T	SPINK5	Single nucleotide variant (intron variant)	Ichthyosis linearis circumflexa	GLikely benign
Select item 2851256	NM_006846.4(SPINK5):c.210-2A>C	SPINK5	Single nucleotide variant (splice acceptor variant)	Ichthyosis linearis circumflexa	GLikely pathogenic
Select item 2844964	NM_006846.4(SPINK5):c.2423_2425del (p.Thr808del)	SPINK5 (T808del)	Deletion (inframe_deletion)	Ichthyosis linearis circumflexa	GPathogenic
Select item 2843795	NM_006846.4(SPINK5):c.2016-3C>G	SPINK5	Single nucleotide variant (intron variant)	Ichthyosis linearis circumflexa	GUncertain significance
Select item 2840843	NM_006846.4(SPINK5):c.2739+17T>A	SPINK5	Single nucleotide variant (3 prime UTR variant +1 more)	Ichthyosis linearis circumflexa	GLikely benign
Select item 2838398	NM_006846.4(SPINK5):c.56-20T>C	SPINK5	Single nucleotide variant (intron variant)	Ichthyosis linearis circumflexa	GLikely benign
Select item 2816142	NM_006846.4(SPINK5):c.1731A>T (p.Gly577=)	SPINK5	Single nucleotide variant (synonymous variant)	Ichthyosis linearis circumflexa	GLikely benign
Select item 2812860	NM_006846.4(SPINK5):c.1887+15T>C	SPINK5	Single nucleotide variant (intron variant)	Ichthyosis linearis circumflexa	GLikely benign
Select item 2808272	NM_006846.4(SPINK5):c.478del (p.Val160fs)	SPINK5 (V160fs)	Deletion (frameshift variant)	Ichthyosis linearis circumflexa	GPathogenic
Select item 2807522	NM_006846.4(SPINK5):c.1480-19T>C	SPINK5	Single nucleotide variant (intron variant)	Ichthyosis linearis circumflexa	GLikely benign
Select item 2802266	NM_006846.4(SPINK5):c.3187-15del	SPINK5	Deletion (intron variant)	Ichthyosis linearis circumflexa	GLikely benign
Select item 2800881	NM_006846.4(SPINK5):c.475-9G>A	SPINK5	Single nucleotide variant (intron variant)	Ichthyosis linearis circumflexa	GLikely benign
Select item 2797967	NM_006846.4(SPINK5):c.1431-12G>T	SPINK5	Single nucleotide variant (intron variant)	Ichthyosis linearis circumflexa	GLikely benign
Select item 2789920	NM_006846.4(SPINK5):c.666+1G>T	SPINK5	Single nucleotide variant (splice donor variant)	Ichthyosis linearis circumflexa	GPathogenic
Select item 2789478	NM_006846.4(SPINK5):c.2113-2A>G	SPINK5	Single nucleotide variant (splice acceptor variant)	Ichthyosis linearis circumflexa	GLikely pathogenic
Select item 2789176	NM_006846.4(SPINK5):c.829_830del (p.Asp277fs)	SPINK5 (D277fs)	Deletion (frameshift variant)	Ichthyosis linearis circumflexa	GPathogenic
Select item 2777894	NM_006846.4(SPINK5):c.209+11G>T	SPINK5	Single nucleotide variant (intron variant)	Ichthyosis linearis circumflexa	GLikely benign
Select item 2760131	NM_006846.4(SPINK5):c.1011-8T>C	SPINK5	Single nucleotide variant (intron variant)	Ichthyosis linearis circumflexa	GLikely benign
Select item 2757061	NM_006846.4(SPINK5):c.2223C>A (p.Thr741=)	SPINK5	Single nucleotide variant (synonymous variant)	Ichthyosis linearis circumflexa	GLikely benign
Select item 2756829	NM_006846.4(SPINK5):c.2274T>C (p.Ser758=)	SPINK5	Single nucleotide variant (synonymous variant)	Ichthyosis linearis circumflexa	GLikely benign
Select item 2742450	NM_006846.4(SPINK5):c.2217G>A (p.Gln739=)	SPINK5	Single nucleotide variant (synonymous variant)	Ichthyosis linearis circumflexa	GLikely benign
Select item 2741679	NM_006846.4(SPINK5):c.1430+9A>C	SPINK5	Single nucleotide variant (intron variant)	Ichthyosis linearis circumflexa	GLikely benign
Select item 2734797	NM_006846.4(SPINK5):c.2098G>T (p.Gly700Ter)	SPINK5 (G700*)	Single nucleotide variant (nonsense)	Ichthyosis linearis circumflexa	GPathogenic
Select item 2734796	NM_006846.4(SPINK5):c.2039_2049del (p.Lys680fs)	SPINK5 (K680fs)	Deletion (frameshift variant)	Ichthyosis linearis circumflexa	GPathogenic
Select item 2732596	NM_006846.4(SPINK5):c.1011-8T>G	SPINK5	Single nucleotide variant (intron variant)	Ichthyosis linearis circumflexa	GLikely benign
Select item 2732569	NM_006846.4(SPINK5):c.1665T>C (p.Ala555=)	SPINK5	Single nucleotide variant (synonymous variant)	Ichthyosis linearis circumflexa	GLikely benign
Select item 2731108	NM_006846.4(SPINK5):c.602+8G>A	SPINK5	Single nucleotide variant (intron variant)	Ichthyosis linearis circumflexa	GLikely benign
Select item 2726422	NM_006846.4(SPINK5):c.2442-15T>C	SPINK5	Single nucleotide variant (intron variant)	Ichthyosis linearis circumflexa	GLikely benign
Select item 2719095	NM_006846.4(SPINK5):c.81+11C>T	SPINK5	Single nucleotide variant (intron variant)	Ichthyosis linearis circumflexa	GLikely benign
Select item 2715984	NM_006846.4(SPINK5):c.1906C>T (p.Arg636Trp)	SPINK5 (R636W)	Single nucleotide variant (missense variant)	Ichthyosis linearis circumflexa	GUncertain significance
Select item 2712648	NM_006846.4(SPINK5):c.2847_2851dup (p.Met951fs)	SPINK5 (M951fs +1 more)	Duplication (frameshift variant)	Ichthyosis linearis circumflexa	GPathogenic
Select item 2712019	NM_006846.4(SPINK5):c.602+14T>G	SPINK5	Single nucleotide variant (intron variant)	Ichthyosis linearis circumflexa	GLikely benign
Select item 2704360	NM_006846.4(SPINK5):c.474+8C>A	SPINK5	Single nucleotide variant (intron variant)	Ichthyosis linearis circumflexa	GLikely benign
Select item 2702130	NM_006846.4(SPINK5):c.211G>T (p.Glu71Ter)	SPINK5 (E71*)	Single nucleotide variant (nonsense)	Ichthyosis linearis circumflexa	GPathogenic
Select item 2428464	NM_006846.4(SPINK5):c.1844_1849del (p.Glu615_Arg616del)	SPINK5	Deletion (inframe_deletion)	Ichthyosis linearis circumflexa	GUncertain significance
Select item 2425648	NC_000005.9:g.(?_147443608)_(147484583_?)del	SPINK5	Deletion	Netherton syndrome	GPathogenic
Select item 2425647	NC_000005.9:g.(?_147470708)_(147470811_?)del	SPINK5	Deletion	Netherton syndrome	GPathogenic
Select item 2421626	NM_006846.4(SPINK5):c.3122G>A (p.Arg1041His)	SPINK5 (R1041H +1 more)	Single nucleotide variant (missense variant)	Ichthyosis linearis circumflexa	GUncertain significance
Select item 2421501	NM_006846.4(SPINK5):c.426A>G (p.Gln142=)	SPINK5	Single nucleotide variant (synonymous variant)	Ichthyosis linearis circumflexa	GLikely benign
Select item 2421116	NM_006846.4(SPINK5):c.2629A>C (p.Met877Leu)	SPINK5 (M877L)	Single nucleotide variant (missense variant)	Ichthyosis linearis circumflexa	GUncertain significance
Select item 2420860	NM_006846.4(SPINK5):c.2234C>T (p.Ala745Val)	SPINK5 (A745V)	Single nucleotide variant (missense variant)	Netherton syndrome	GUncertain significance
Select item 2418808	NM_006846.4(SPINK5):c.1414A>T (p.Met472Leu)	SPINK5 (M472L)	Single nucleotide variant (missense variant)	Netherton syndrome	GUncertain significance
Select item 2417916	NM_006846.4(SPINK5):c.2666+14T>C	SPINK5	Single nucleotide variant (intron variant)	Ichthyosis linearis circumflexa	GLikely benign
Select item 2416332	NM_006846.4(SPINK5):c.1479+11C>T	SPINK5	Single nucleotide variant (intron variant)	Ichthyosis linearis circumflexa	GLikely benign
Select item 2415129	NM_006846.4(SPINK5):c.1302+5G>A	SPINK5	Single nucleotide variant (intron variant)	Ichthyosis linearis circumflexa	GUncertain significance
Select item 2414843	NM_006846.4(SPINK5):c.1444A>C (p.Arg482=)	SPINK5	Single nucleotide variant (synonymous variant)	Ichthyosis linearis circumflexa	GLikely benign
Select item 2198932	NM_006846.4(SPINK5):c.2965-1G>A	SPINK5	Single nucleotide variant (splice acceptor variant)	Ichthyosis linearis circumflexa	GLikely pathogenic
Select item 2198671	NM_006846.4(SPINK5):c.1338C>T (p.Asn446=)	SPINK5	Single nucleotide variant (synonymous variant)	Ichthyosis linearis circumflexa	GLikely benign
Select item 2197744	NM_006846.4(SPINK5):c.443A>C (p.Glu148Ala)	SPINK5 (E148A)	Single nucleotide variant (missense variant)	Netherton syndrome	GUncertain significance
Select item 2194719	NM_006846.4(SPINK5):c.1892C>T (p.Thr631Ile)	SPINK5 (T631I)	Single nucleotide variant (missense variant)	Netherton syndrome	GUncertain significance
Select item 2193906	NM_006846.4(SPINK5):c.1155C>T (p.Asn385=)	SPINK5	Single nucleotide variant (synonymous variant)	Ichthyosis linearis circumflexa	GLikely benign
Select item 2193588	NM_006846.4(SPINK5):c.955C>T (p.Arg319Cys)	SPINK5 (R319C)	Single nucleotide variant (missense variant)	Ichthyosis linearis circumflexa	GUncertain significance
Select item 2192699	NM_006846.4(SPINK5):c.1093-5G>A	SPINK5	Single nucleotide variant (intron variant)	Netherton syndrome	GUncertain significance
Select item 2191478	NM_006846.4(SPINK5):c.953T>C (p.Ile318Thr)	SPINK5 (I318T)	Single nucleotide variant (missense variant)	Ichthyosis linearis circumflexa	GUncertain significance
Select item 2188755	NM_006846.4(SPINK5):c.133C>T (p.Pro45Ser)	SPINK5 (P45S)	Single nucleotide variant (missense variant)	Ichthyosis linearis circumflexa +1 more	GConflicting classifications of pathogenicity
Select item 2187118	NM_006846.4(SPINK5):c.2539-12T>C	SPINK5	Single nucleotide variant (intron variant)	Ichthyosis linearis circumflexa	GLikely benign
Select item 2183975	NM_006846.4(SPINK5):c.1059C>T (p.Asn353=)	SPINK5	Single nucleotide variant (synonymous variant)	Ichthyosis linearis circumflexa	GLikely benign

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